Canonical Allele Identifier: CA364516422
Gene: DST HGNC NCBI

Linked Data

ClinVar Variation Id: 3076107
ClinVar RCV Id: RCV004018424

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56553102A>C , CM000668.2:g.56553102A>C GRCh38
NC_000006.11:g.56417900A>C , CM000668.1:g.56417900A>C GRCh37
NC_000006.10:g.56525859A>C NCBI36
NG_029322.1:g.94795T>G
NG_029322.2:g.406527T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000421834.7:c.8799T>G ENSP00000400883.3:p.Asn2933Lys
ENST00000449297.7:c.9333T>G ENSP00000393082.3:p.Asn3111Lys
ENST00000520645.6:c.8919T>G ENSP00000431030.2:p.Asn2973Lys
ENST00000680361.1:c.15690T>G MANE Select ENSP00000505098.1:p.Asn5230Lys
ENST00000244364.10:c.7821T>G ENSP00000244364.6:p.Asn2607Lys
ENST00000312431.10:c.8919T>G ENSP00000307959.7:p.Asn2973Lys
ENST00000361203.7:c.15057T>G ENSP00000354508.3:p.Asn5019Lys
ENST00000370754.9:c.9333T>G ENSP00000359790.6:p.Asn3111Lys
ENST00000370788.6:c.8799T>G ENSP00000359824.2:p.Asn2933Lys
ENST00000421834.6:c.8799T>G ENSP00000400883.3:p.Asn2933Lys
NM_001144769.2:c.9333T>G NP_001138241.1:p.Asn3111Lys
NM_001144770.1:c.8919T>G NP_001138242.1:p.Asn2973Lys
NM_015548.4:c.7821T>G NP_056363.2:p.Asn2607Lys
NM_183380.3:c.8799T>G NP_899236.1:p.Asn2933Lys
XM_005249310.2:c.15690T>G XP_005249367.1:p.Asn5230Lys
XM_005249315.2:c.15591T>G XP_005249372.1:p.Asn5197Lys
XM_005249316.1:c.15405T>G XP_005249373.1:p.Asn5135Lys
XM_005249318.1:c.15276T>G XP_005249375.1:p.Asn5092Lys
XM_005249319.1:c.15177T>G XP_005249376.1:p.Asn5059Lys
XM_005249320.3:c.15156T>G XP_005249377.1:p.Asn5052Lys
XM_005249322.3:c.15135T>G XP_005249379.1:p.Asn5045Lys
XM_005249323.2:c.15057T>G XP_005249380.1:p.Asn5019Lys
XM_005249324.1:c.14079T>G XP_005249381.1:p.Asn4693Lys
XM_011514824.1:c.15618T>G XP_011513126.1:p.Asn5206Lys
XM_011514825.1:c.9360T>G XP_011513127.1:p.Asn3120Lys
XM_011514826.1:c.15057T>G XP_011513128.1:p.Asn5019Lys
XM_005249310.4:c.15690T>G XP_005249367.1:p.Asn5230Lys
XM_005249315.3:c.15591T>G XP_005249372.1:p.Asn5197Lys
XM_005249316.3:c.15405T>G XP_005249373.1:p.Asn5135Lys
XM_005249318.2:c.15276T>G XP_005249375.1:p.Asn5092Lys
XM_005249319.2:c.15177T>G XP_005249376.1:p.Asn5059Lys
XM_005249320.4:c.15156T>G XP_005249377.1:p.Asn5052Lys
XM_005249322.5:c.15135T>G XP_005249379.1:p.Asn5045Lys
XM_005249323.4:c.15057T>G XP_005249380.1:p.Asn5019Lys
XM_005249324.3:c.14079T>G XP_005249381.1:p.Asn4693Lys
XM_011514824.2:c.15618T>G XP_011513126.1:p.Asn5206Lys
XM_011514825.3:c.9360T>G XP_011513127.1:p.Asn3120Lys
XM_011514826.3:c.15057T>G XP_011513128.1:p.Asn5019Lys
XM_017011205.1:c.15717T>G XP_016866694.1:p.Asn5239Lys
XM_017011206.1:c.15717T>G XP_016866695.1:p.Asn5239Lys
XM_017011207.1:c.15654T>G XP_016866696.1:p.Asn5218Lys
XM_017011208.1:c.15717T>G XP_016866697.1:p.Asn5239Lys
XM_017011209.1:c.15717T>G XP_016866698.1:p.Asn5239Lys
XM_017011210.1:c.15717T>G XP_016866699.1:p.Asn5239Lys
XM_017011211.2:c.15717T>G XP_016866700.1:p.Asn5239Lys
XM_017011212.1:c.15483T>G XP_016866701.1:p.Asn5161Lys
XM_017011213.1:c.15717T>G XP_016866702.1:p.Asn5239Lys
XM_017011214.2:c.15717T>G XP_016866703.1:p.Asn5239Lys
XM_017011215.2:c.15717T>G XP_016866704.1:p.Asn5239Lys
XM_017011216.2:c.15717T>G XP_016866705.1:p.Asn5239Lys
XM_017011217.1:c.15093T>G XP_016866706.1:p.Asn5031Lys
XM_017011218.1:c.10284T>G XP_016866707.1:p.Asn3428Lys
XM_017011219.1:c.9459T>G XP_016866708.1:p.Asn3153Lys
XM_017011220.1:c.9333T>G XP_016866709.1:p.Asn3111Lys
XM_017011221.1:c.9225T>G XP_016866710.1:p.Asn3075Lys
XM_017011222.2:c.9147T>G XP_016866711.1:p.Asn3049Lys
XM_017011223.1:c.9459T>G XP_016866712.1:p.Asn3153Lys
XM_017011224.2:c.8799T>G XP_016866713.1:p.Asn2933Lys
XM_024446530.1:c.15036T>G XP_024302298.1:p.Asn5012Lys
NM_001144769.5:c.9333T>G NP_001138241.1:p.Asn3111Lys
NM_001144770.2:c.8919T>G NP_001138242.1:p.Asn2973Lys
NM_001374722.1:c.15690T>G NP_001361651.1:p.Asn5230Lys
NM_001374729.1:c.15057T>G NP_001361658.1:p.Asn5019Lys
NM_001374730.1:c.8799T>G NP_001361659.1:p.Asn2933Lys
NM_001374734.1:c.15717T>G NP_001361663.1:p.Asn5239Lys
NM_001374736.1:c.15690T>G MANE Select NP_001361665.1:p.Asn5230Lys
NM_015548.5:c.7821T>G NP_056363.2:p.Asn2607Lys
NM_183380.4:c.8799T>G NP_899236.1:p.Asn2933Lys
NM_001386100.1:c.8799T>G NP_001373029.1:p.Asn2933Lys