Canonical Allele Identifier: CA396632487

Gene: HYDIN

Linked Data

• MyVariant Identifiers: chr16:g.71022036C>G (hg19) ; chr16:g.70988133C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70988133C>G , CM000678.2:g.70988133C>G	GRCh38
NC_000016.9:g.71022036C>G , CM000678.1:g.71022036C>G	GRCh37
NG_033116.1:g.247590G>C
NG_033116.2:g.247590G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393567.7:c.3985G>C MANE Select	ENSP00000377197.2:p.Val1329Leu
ENST00000393552.6:c.2616G>C	ENSP00000463767.1:n.2616G>C
ENST00000393567.6:c.3985G>C	ENSP00000377197.2:p.Val1329Leu
NM_001270974.1:c.3985G>C	NP_001257903.1:p.Val1329Leu
XM_006721206.2:c.4036G>C	XP_006721269.1:p.Val1346Leu
XM_011523146.1:c.4168G>C	XP_011521448.1:p.Val1390Leu
XM_011523147.1:c.4138G>C	XP_011521449.1:p.Val1380Leu
XM_011523148.1:c.4087G>C	XP_011521450.1:p.Val1363Leu
XM_011523149.1:c.4087G>C	XP_011521451.1:p.Val1363Leu
XM_011523150.1:c.4087G>C	XP_011521452.1:p.Val1363Leu
XM_011523151.1:c.4066G>C	XP_011521453.1:p.Val1356Leu
NM_001270974.2:c.3985G>C MANE Select	NP_001257903.1:p.Val1329Leu
XM_006721206.3:c.4036G>C	XP_006721269.1:p.Val1346Leu
XM_011523146.2:c.4168G>C	XP_011521448.1:p.Val1390Leu
XM_011523151.2:c.4066G>C	XP_011521453.1:p.Val1356Leu
XM_017023346.2:c.4105G>C	XP_016878835.1:p.Val1369Leu
XM_017023347.1:c.2197G>C	XP_016878836.1:p.Val733Leu
XM_017023348.1:c.2197G>C	XP_016878837.1:p.Val733Leu