Canonical Allele Identifier: CA8151690
Community Standard Title: NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln)
Gene: HYDIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.71186765C>T , CM000678.2:g.71186765C>T GRCh38
NC_000016.9:g.71220668C>T , CM000678.1:g.71220668C>T GRCh37
NC_000016.8:g.69778169C>T NCBI36
NG_033116.1:g.48958G>A
NG_033116.2:g.48958G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001270974.2:c.131G>A MANE Select NP_001257903.1:p.Arg44Gln
ENST00000393567.7:c.131G>A MANE Select ENSP00000377197.2:p.Arg44Gln
NM_001198542.1:c.212G>A NP_001185471.1:p.Arg71Gln
NM_001198543.1:c.182G>A NP_001185472.1:p.Arg61Gln
NM_001270974.1:c.131G>A NP_001257903.1:p.Arg44Gln
NM_017558.4:c.131G>A NP_060028.2:p.Arg44Gln
NM_017558.5:c.131G>A NP_060028.2:p.Arg44Gln
ENST00000288168.14:c.182G>A ENSP00000288168.10:p.Arg61Gln
ENST00000321489.9:c.131G>A ENSP00000314736.5:p.Arg44Gln
ENST00000393567.6:c.131G>A ENSP00000377197.2:p.Arg44Gln
ENST00000538248.5:c.212G>A ENSP00000444970.1:p.Arg71Gln
ENST00000539447.5:c.34G>A
ENST00000541601.5:c.182G>A ENSP00000437341.1:p.Arg61Gln
XM_006721206.2:c.182G>A XP_006721269.1:p.Arg61Gln
XM_006721206.3:c.182G>A XP_006721269.1:p.Arg61Gln
XM_011523146.1:c.212G>A XP_011521448.1:p.Arg71Gln
XM_011523146.2:c.212G>A XP_011521448.1:p.Arg71Gln
XM_011523147.1:c.182G>A XP_011521449.1:p.Arg61Gln
XM_011523148.1:c.131G>A XP_011521450.1:p.Arg44Gln
XM_011523149.1:c.131G>A XP_011521451.1:p.Arg44Gln
XM_011523150.1:c.131G>A XP_011521452.1:p.Arg44Gln
XM_011523151.1:c.212G>A XP_011521453.1:p.Arg71Gln
XM_011523151.2:c.212G>A XP_011521453.1:p.Arg71Gln
XM_017023346.2:c.251G>A XP_016878835.1:p.Arg84Gln