Canonical Allele Identifier: CA364519355

Gene: DST

Linked Data

• gnomAD v4: 6-56555644-A-G
• MyVariant Identifiers: chr6:g.56420442A>G (hg19) ; chr6:g.56555644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.56555644A>G , CM000668.2:g.56555644A>G	GRCh38
NC_000006.11:g.56420442A>G , CM000668.1:g.56420442A>G	GRCh37
NC_000006.10:g.56528401A>G	NCBI36
NG_029322.1:g.92253T>C
NG_029322.2:g.403985T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000421834.7:c.7946T>C	ENSP00000400883.3:p.Ile2649Thr
ENST00000449297.7:c.8480T>C	ENSP00000393082.3:p.Ile2827Thr
ENST00000520645.6:c.8066T>C	ENSP00000431030.2:p.Ile2689Thr
ENST00000520144.2:n.808T>C
ENST00000680361.1:c.14837T>C MANE Select	ENSP00000505098.1:p.Ile4946Thr
ENST00000244364.10:c.6968T>C	ENSP00000244364.6:p.Ile2323Thr
ENST00000312431.10:c.8066T>C	ENSP00000307959.7:p.Ile2689Thr
ENST00000361203.7:c.14204T>C	ENSP00000354508.3:p.Ile4735Thr
ENST00000370754.9:c.8480T>C	ENSP00000359790.6:p.Ile2827Thr
ENST00000370788.6:c.7946T>C	ENSP00000359824.2:p.Ile2649Thr
ENST00000421834.6:c.7946T>C	ENSP00000400883.3:p.Ile2649Thr
ENST00000520144.1:n.546T>C
NM_001144769.2:c.8480T>C	NP_001138241.1:p.Ile2827Thr
NM_001144770.1:c.8066T>C	NP_001138242.1:p.Ile2689Thr
NM_015548.4:c.6968T>C	NP_056363.2:p.Ile2323Thr
NM_183380.3:c.7946T>C	NP_899236.1:p.Ile2649Thr
XM_005249310.2:c.14837T>C	XP_005249367.1:p.Ile4946Thr
XM_005249315.2:c.14738T>C	XP_005249372.1:p.Ile4913Thr
XM_005249316.1:c.14552T>C	XP_005249373.1:p.Ile4851Thr
XM_005249318.1:c.14423T>C	XP_005249375.1:p.Ile4808Thr
XM_005249319.1:c.14324T>C	XP_005249376.1:p.Ile4775Thr
XM_005249320.3:c.14303T>C	XP_005249377.1:p.Ile4768Thr
XM_005249322.3:c.14282T>C	XP_005249379.1:p.Ile4761Thr
XM_005249323.2:c.14204T>C	XP_005249380.1:p.Ile4735Thr
XM_005249324.1:c.13226T>C	XP_005249381.1:p.Ile4409Thr
XM_011514824.1:c.14765T>C	XP_011513126.1:p.Ile4922Thr
XM_011514825.1:c.8507T>C	XP_011513127.1:p.Ile2836Thr
XM_011514826.1:c.14204T>C	XP_011513128.1:p.Ile4735Thr
XM_005249310.4:c.14837T>C	XP_005249367.1:p.Ile4946Thr
XM_005249315.3:c.14738T>C	XP_005249372.1:p.Ile4913Thr
XM_005249316.3:c.14552T>C	XP_005249373.1:p.Ile4851Thr
XM_005249318.2:c.14423T>C	XP_005249375.1:p.Ile4808Thr
XM_005249319.2:c.14324T>C	XP_005249376.1:p.Ile4775Thr
XM_005249320.4:c.14303T>C	XP_005249377.1:p.Ile4768Thr
XM_005249322.5:c.14282T>C	XP_005249379.1:p.Ile4761Thr
XM_005249323.4:c.14204T>C	XP_005249380.1:p.Ile4735Thr
XM_005249324.3:c.13226T>C	XP_005249381.1:p.Ile4409Thr
XM_011514824.2:c.14765T>C	XP_011513126.1:p.Ile4922Thr
XM_011514825.3:c.8507T>C	XP_011513127.1:p.Ile2836Thr
XM_011514826.3:c.14204T>C	XP_011513128.1:p.Ile4735Thr
XM_017011205.1:c.14864T>C	XP_016866694.1:p.Ile4955Thr
XM_017011206.1:c.14864T>C	XP_016866695.1:p.Ile4955Thr
XM_017011207.1:c.14801T>C	XP_016866696.1:p.Ile4934Thr
XM_017011208.1:c.14864T>C	XP_016866697.1:p.Ile4955Thr
XM_017011209.1:c.14864T>C	XP_016866698.1:p.Ile4955Thr
XM_017011210.1:c.14864T>C	XP_016866699.1:p.Ile4955Thr
XM_017011211.2:c.14864T>C	XP_016866700.1:p.Ile4955Thr
XM_017011212.1:c.14630T>C	XP_016866701.1:p.Ile4877Thr
XM_017011213.1:c.14864T>C	XP_016866702.1:p.Ile4955Thr
XM_017011214.2:c.14864T>C	XP_016866703.1:p.Ile4955Thr
XM_017011215.2:c.14864T>C	XP_016866704.1:p.Ile4955Thr
XM_017011216.2:c.14864T>C	XP_016866705.1:p.Ile4955Thr
XM_017011217.1:c.14240T>C	XP_016866706.1:p.Ile4747Thr
XM_017011218.1:c.9431T>C	XP_016866707.1:p.Ile3144Thr
XM_017011219.1:c.8606T>C	XP_016866708.1:p.Ile2869Thr
XM_017011220.1:c.8480T>C	XP_016866709.1:p.Ile2827Thr
XM_017011221.1:c.8372T>C	XP_016866710.1:p.Ile2791Thr
XM_017011222.2:c.8294T>C	XP_016866711.1:p.Ile2765Thr
XM_017011223.1:c.8606T>C	XP_016866712.1:p.Ile2869Thr
XM_017011224.2:c.7946T>C	XP_016866713.1:p.Ile2649Thr
XM_024446530.1:c.14183T>C	XP_024302298.1:p.Ile4728Thr
NM_001144769.5:c.8480T>C	NP_001138241.1:p.Ile2827Thr
NM_001144770.2:c.8066T>C	NP_001138242.1:p.Ile2689Thr
NM_001374722.1:c.14837T>C	NP_001361651.1:p.Ile4946Thr
NM_001374729.1:c.14204T>C	NP_001361658.1:p.Ile4735Thr
NM_001374730.1:c.7946T>C	NP_001361659.1:p.Ile2649Thr
NM_001374734.1:c.14864T>C	NP_001361663.1:p.Ile4955Thr
NM_001374736.1:c.14837T>C MANE Select	NP_001361665.1:p.Ile4946Thr
NM_015548.5:c.6968T>C	NP_056363.2:p.Ile2323Thr
NM_183380.4:c.7946T>C	NP_899236.1:p.Ile2649Thr
NM_001386100.1:c.7946T>C	NP_001373029.1:p.Ile2649Thr