Canonical Allele Identifier: CA396845328
Community Standard Title: NM_001270974.2(HYDIN):c.283C>T (p.Gln95Ter)
Gene: HYDIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.71179026G>A , CM000678.2:g.71179026G>A GRCh38
NC_000016.9:g.71212929G>A , CM000678.1:g.71212929G>A GRCh37
NC_000016.8:g.69770430G>A NCBI36
NG_033116.1:g.56697C>T
NG_033116.2:g.56697C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001270974.2:c.283C>T MANE Select NP_001257903.1:p.Gln95Ter
ENST00000393567.7:c.283C>T MANE Select ENSP00000377197.2:p.Gln95Ter
NM_001198542.1:c.364C>T NP_001185471.1:p.Gln122Ter
NM_001198543.1:c.334C>T NP_001185472.1:p.Gln112Ter
NM_001270974.1:c.283C>T NP_001257903.1:p.Gln95Ter
NM_017558.4:c.283C>T NP_060028.2:p.Gln95Ter
NM_017558.5:c.283C>T NP_060028.2:p.Gln95Ter
ENST00000288168.14:c.334C>T ENSP00000288168.10:p.Gln112Ter
ENST00000321489.9:c.283C>T ENSP00000314736.5:p.Gln95Ter
ENST00000393567.6:c.283C>T ENSP00000377197.2:p.Gln95Ter
ENST00000537789.1:n.1C>T
ENST00000538248.5:c.364C>T ENSP00000444970.1:p.Gln122Ter
ENST00000539447.5:c.186C>T
ENST00000541601.5:c.334C>T ENSP00000437341.1:p.Gln112Ter
XM_006721206.2:c.334C>T XP_006721269.1:p.Gln112Ter
XM_006721206.3:c.334C>T XP_006721269.1:p.Gln112Ter
XM_011523146.1:c.364C>T XP_011521448.1:p.Gln122Ter
XM_011523146.2:c.364C>T XP_011521448.1:p.Gln122Ter
XM_011523147.1:c.334C>T XP_011521449.1:p.Gln112Ter
XM_011523148.1:c.283C>T XP_011521450.1:p.Gln95Ter
XM_011523149.1:c.283C>T XP_011521451.1:p.Gln95Ter
XM_011523150.1:c.283C>T XP_011521452.1:p.Gln95Ter
XM_011523151.1:c.364C>T XP_011521453.1:p.Gln122Ter
XM_011523151.2:c.364C>T XP_011521453.1:p.Gln122Ter
XM_017023346.2:c.403C>T XP_016878835.1:p.Gln135Ter