Canonical Allele Identifier: CA283523855

Gene: HYDIN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.71025394G>A , CM000678.2:g.71025394G>A	GRCh38
NC_000016.9:g.71059297G>A , CM000678.1:g.71059297G>A	GRCh37
NG_033116.1:g.210329C>T
NG_033116.2:g.210329C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001270974.2:c.3175C>T MANE Select	NP_001257903.1:p.Arg1059Ter
ENST00000393567.7:c.3175C>T MANE Select	ENSP00000377197.2:p.Arg1059Ter
NM_001270974.1:c.3175C>T	NP_001257903.1:p.Arg1059Ter
ENST00000393552.6:c.1896+2208C>T	ENSP00000463767.1:n.1896+2208C>T
ENST00000393567.6:c.3175C>T	ENSP00000377197.2:p.Arg1059Ter
ENST00000538568.5:c.323-5077C>T
XM_006721206.2:c.3226C>T	XP_006721269.1:p.Arg1076Ter
XM_006721206.3:c.3226C>T	XP_006721269.1:p.Arg1076Ter
XM_011523146.1:c.3358C>T	XP_011521448.1:p.Arg1120Ter
XM_011523146.2:c.3358C>T	XP_011521448.1:p.Arg1120Ter
XM_011523147.1:c.3328C>T	XP_011521449.1:p.Arg1110Ter
XM_011523148.1:c.3277C>T	XP_011521450.1:p.Arg1093Ter
XM_011523149.1:c.3277C>T	XP_011521451.1:p.Arg1093Ter
XM_011523150.1:c.3277C>T	XP_011521452.1:p.Arg1093Ter
XM_011523151.1:c.3256C>T	XP_011521453.1:p.Arg1086Ter
XM_011523151.2:c.3256C>T	XP_011521453.1:p.Arg1086Ter
XM_017023346.2:c.3295C>T	XP_016878835.1:p.Arg1099Ter
XM_017023347.1:c.1387C>T	XP_016878836.1:p.Arg463Ter
XM_017023348.1:c.1387C>T	XP_016878837.1:p.Arg463Ter