Canonical Allele Identifier: CA396627265
Community Standard Title: NM_001270974.2(HYDIN):c.4888A>T (p.Lys1630Ter)
Gene: HYDIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70974555T>A , CM000678.2:g.70974555T>A GRCh38
NC_000016.9:g.71008458T>A , CM000678.1:g.71008458T>A GRCh37
NG_033116.1:g.261168A>T
NG_033116.2:g.261168A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001270974.2:c.4888A>T MANE Select NP_001257903.1:p.Lys1630Ter
ENST00000393567.7:c.4888A>T MANE Select ENSP00000377197.2:p.Lys1630Ter
NM_001270974.1:c.4888A>T NP_001257903.1:p.Lys1630Ter
ENST00000393567.6:c.4888A>T ENSP00000377197.2:p.Lys1630Ter
ENST00000543521.1:n.15A>T
XM_006721206.2:c.4939A>T XP_006721269.1:p.Lys1647Ter
XM_006721206.3:c.4939A>T XP_006721269.1:p.Lys1647Ter
XM_011523146.1:c.5071A>T XP_011521448.1:p.Lys1691Ter
XM_011523146.2:c.5071A>T XP_011521448.1:p.Lys1691Ter
XM_011523147.1:c.5041A>T XP_011521449.1:p.Lys1681Ter
XM_011523148.1:c.4990A>T XP_011521450.1:p.Lys1664Ter
XM_011523149.1:c.4990A>T XP_011521451.1:p.Lys1664Ter
XM_011523150.1:c.4990A>T XP_011521452.1:p.Lys1664Ter
XM_011523151.1:c.4969A>T XP_011521453.1:p.Lys1657Ter
XM_011523151.2:c.4969A>T XP_011521453.1:p.Lys1657Ter
XM_017023346.2:c.5008A>T XP_016878835.1:p.Lys1670Ter
XM_017023347.1:c.3100A>T XP_016878836.1:p.Lys1034Ter
XM_017023348.1:c.3100A>T XP_016878837.1:p.Lys1034Ter