Canonical Allele Identifier: CA261200

Gene: HYDIN

Linked Data

• ClinVar Variation Id: 39698
• ClinVar RCV Id: RCV000032900
• dbSNP Id: rs397515413
• MyVariant Identifiers: chr16:g.71022036C>A (hg19) ; chr16:g.70988133C>A (hg38)
• PubMed: PMID:20301301 ; PMID:23022101

Genomic Alleles

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

Transcript Alleles

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