Canonical Allele Identifier: CA8149514
Community Standard Title: NM_001270974.2(HYDIN):c.9397C>T (p.Gln3133Ter)
Gene: HYDIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70892381G>A , CM000678.2:g.70892381G>A GRCh38
NC_000016.9:g.70926284G>A , CM000678.1:g.70926284G>A GRCh37
NG_033116.1:g.343342C>T
NG_033116.2:g.343342C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001270974.2:c.9397C>T MANE Select NP_001257903.1:p.Gln3133Ter
ENST00000393567.7:c.9397C>T MANE Select ENSP00000377197.2:p.Gln3133Ter
NM_001270974.1:c.9397C>T NP_001257903.1:p.Gln3133Ter
ENST00000393567.6:c.9397C>T ENSP00000377197.2:p.Gln3133Ter
XM_006721206.2:c.9448C>T XP_006721269.1:p.Gln3150Ter
XM_006721206.3:c.9448C>T XP_006721269.1:p.Gln3150Ter
XM_011523146.1:c.9580C>T XP_011521448.1:p.Gln3194Ter
XM_011523146.2:c.9580C>T XP_011521448.1:p.Gln3194Ter
XM_011523147.1:c.9550C>T XP_011521449.1:p.Gln3184Ter
XM_011523148.1:c.9499C>T XP_011521450.1:p.Gln3167Ter
XM_011523149.1:c.9499C>T XP_011521451.1:p.Gln3167Ter
XM_011523150.1:c.9499C>T XP_011521452.1:p.Gln3167Ter
XM_011523151.1:c.9478C>T XP_011521453.1:p.Gln3160Ter
XM_011523151.2:c.9478C>T XP_011521453.1:p.Gln3160Ter
XM_011523152.1:c.3259C>T XP_011521454.1:p.Gln1087Ter
XM_011523153.1:c.2785C>T XP_011521455.1:p.Gln929Ter
XM_011523154.1:c.2377C>T XP_011521456.1:p.Gln793Ter
XM_011523155.1:c.2287C>T XP_011521457.1:p.Gln763Ter
XM_011523155.2:c.2287C>T XP_011521457.1:p.Gln763Ter
XM_017023346.2:c.9517C>T XP_016878835.1:p.Gln3173Ter
XM_017023347.1:c.7609C>T XP_016878836.1:p.Gln2537Ter
XM_017023348.1:c.7609C>T XP_016878837.1:p.Gln2537Ter