Canonical Allele Identifier: CA450481282
Gene: DST HGNC NCBI

Linked Data

ClinVar Variation Id: 1149854
ClinVar RCV Id: RCV001490249
dbSNP Id: rs2094189177
gnomAD v4: 6-56459047-C-T
MyVariant Identifiers: chr6:g.56323845C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56459047C>T , CM000668.2:g.56459047C>T GRCh38
NC_000006.11:g.56323845C>T , CM000668.1:g.56323845C>T GRCh37
NC_000006.10:g.56431804C>T NCBI36
NG_029322.1:g.188850G>A
NG_029322.2:g.500582G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000421834.7:c.16452G>A ENSP00000400883.3:p.Arg5484=
ENST00000449297.7:c.16641G>A ENSP00000393082.3:p.Arg5547=
ENST00000520645.6:c.16227G>A ENSP00000431030.2:p.Arg5409=
ENST00000340834.10:c.7989G>A ENSP00000489032.2:p.Arg2663=
ENST00000651289.1:c.1834G>A
ENST00000651457.1:n.5026G>A
ENST00000651790.1:c.4001G>A
ENST00000651941.1:n.7798G>A
ENST00000680361.1:c.23415G>A MANE Select ENSP00000505098.1:p.Arg7805=
ENST00000244364.10:c.15474G>A ENSP00000244364.6:p.Arg5158=
ENST00000312431.10:c.16572G>A ENSP00000307959.7:p.Arg5524=
ENST00000361203.7:c.22344G>A ENSP00000354508.3:p.Arg7448=
ENST00000370754.9:c.16986G>A ENSP00000359790.6:p.Arg5662=
ENST00000370788.6:c.16086G>A ENSP00000359824.2:p.Arg5362=
ENST00000421834.6:c.16452G>A ENSP00000400883.3:p.Arg5484=
ENST00000466429.5:n.1208G>A
ENST00000482156.5:n.2055G>A
ENST00000518464.5:n.2159G>A
ENST00000523292.5:c.737G>A
NM_001144769.2:c.16986G>A NP_001138241.1:p.Arg5662=
NM_001144770.1:c.16572G>A NP_001138242.1:p.Arg5524=
NM_015548.4:c.15474G>A NP_056363.2:p.Arg5158=
NM_183380.3:c.16452G>A NP_899236.1:p.Arg5484=
XM_005249310.2:c.23415G>A XP_005249367.1:p.Arg7805=
XM_005249315.2:c.23316G>A XP_005249372.1:p.Arg7772=
XM_005249316.1:c.23130G>A XP_005249373.1:p.Arg7710=
XM_005249318.1:c.23001G>A XP_005249375.1:p.Arg7667=
XM_005249319.1:c.22902G>A XP_005249376.1:p.Arg7634=
XM_005249320.3:c.22881G>A XP_005249377.1:p.Arg7627=
XM_005249322.3:c.22860G>A XP_005249379.1:p.Arg7620=
XM_005249323.2:c.22782G>A XP_005249380.1:p.Arg7594=
XM_005249324.1:c.21804G>A XP_005249381.1:p.Arg7268=
XM_011514824.1:c.23343G>A XP_011513126.1:p.Arg7781=
XM_011514825.1:c.17013G>A XP_011513127.1:p.Arg5671=
XM_011514826.1:c.22344G>A XP_011513128.1:p.Arg7448=
XM_005249310.4:c.23415G>A XP_005249367.1:p.Arg7805=
XM_005249315.3:c.23316G>A XP_005249372.1:p.Arg7772=
XM_005249316.3:c.23130G>A XP_005249373.1:p.Arg7710=
XM_005249318.2:c.23001G>A XP_005249375.1:p.Arg7667=
XM_005249319.2:c.22902G>A XP_005249376.1:p.Arg7634=
XM_005249320.4:c.22881G>A XP_005249377.1:p.Arg7627=
XM_005249322.5:c.22860G>A XP_005249379.1:p.Arg7620=
XM_005249323.4:c.22782G>A XP_005249380.1:p.Arg7594=
XM_005249324.3:c.21804G>A XP_005249381.1:p.Arg7268=
XM_011514824.2:c.23343G>A XP_011513126.1:p.Arg7781=
XM_011514825.3:c.17013G>A XP_011513127.1:p.Arg5671=
XM_011514826.3:c.22344G>A XP_011513128.1:p.Arg7448=
XM_017011205.1:c.23442G>A XP_016866694.1:p.Arg7814=
XM_017011206.1:c.23424G>A XP_016866695.1:p.Arg7808=
XM_017011207.1:c.23379G>A XP_016866696.1:p.Arg7793=
XM_017011208.1:c.23370G>A XP_016866697.1:p.Arg7790=
XM_017011209.1:c.23352G>A XP_016866698.1:p.Arg7784=
XM_017011210.1:c.23331G>A XP_016866699.1:p.Arg7777=
XM_017011211.2:c.23259G>A XP_016866700.1:p.Arg7753=
XM_017011212.1:c.23208G>A XP_016866701.1:p.Arg7736=
XM_017011213.1:c.23115G>A XP_016866702.1:p.Arg7705=
XM_017011214.2:c.23043G>A XP_016866703.1:p.Arg7681=
XM_017011215.2:c.23004G>A XP_016866704.1:p.Arg7668=
XM_017011216.2:c.22932G>A XP_016866705.1:p.Arg7644=
XM_017011217.1:c.22818G>A XP_016866706.1:p.Arg7606=
XM_017011218.1:c.18009G>A XP_016866707.1:p.Arg6003=
XM_017011219.1:c.17184G>A XP_016866708.1:p.Arg5728=
XM_017011220.1:c.17058G>A XP_016866709.1:p.Arg5686=
XM_017011221.1:c.16950G>A XP_016866710.1:p.Arg5650=
XM_017011222.2:c.16872G>A XP_016866711.1:p.Arg5624=
XM_017011223.1:c.16857G>A XP_016866712.1:p.Arg5619=
XM_017011224.2:c.16086G>A XP_016866713.1:p.Arg5362=
XM_024446530.1:c.22761G>A XP_024302298.1:p.Arg7587=
NM_001144769.5:c.16986G>A NP_001138241.1:p.Arg5662=
NM_001144770.2:c.16572G>A NP_001138242.1:p.Arg5524=
NM_001374722.1:c.23343G>A NP_001361651.1:p.Arg7781=
NM_001374729.1:c.22344G>A NP_001361658.1:p.Arg7448=
NM_001374730.1:c.16086G>A NP_001361659.1:p.Arg5362=
NM_001374734.1:c.23370G>A NP_001361663.1:p.Arg7790=
NM_001374736.1:c.23415G>A MANE Select NP_001361665.1:p.Arg7805=
NM_015548.5:c.15474G>A NP_056363.2:p.Arg5158=
NM_183380.4:c.16452G>A NP_899236.1:p.Arg5484=
NM_001386100.1:c.16434G>A NP_001373029.1:p.Arg5478=