Canonical Allele Identifier: CA396633182

Gene: HYDIN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.71129720G>A , CM000678.2:g.71129720G>A	GRCh38
NC_000016.9:g.71163623G>A , CM000678.1:g.71163623G>A	GRCh37
NG_033116.1:g.106003C>T
NG_033116.2:g.106003C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001270974.2:c.1147C>T MANE Select	NP_001257903.1:p.Arg383Ter
ENST00000393567.7:c.1147C>T MANE Select	ENSP00000377197.2:p.Arg383Ter
NM_001198542.1:c.1228C>T	NP_001185471.1:p.Arg410Ter
NM_001198543.1:c.1198C>T	NP_001185472.1:p.Arg400Ter
NM_001270974.1:c.1147C>T	NP_001257903.1:p.Arg383Ter
NM_017558.4:c.1147C>T	NP_060028.2:p.Arg383Ter
NM_017558.5:c.1147C>T	NP_060028.2:p.Arg383Ter
ENST00000288168.14:c.1198C>T	ENSP00000288168.10:p.Arg400Ter
ENST00000321489.9:c.1147C>T	ENSP00000314736.5:p.Arg383Ter
ENST00000393552.6:c.1C>T	ENSP00000463767.1:p.Arg1Ter
ENST00000393567.6:c.1147C>T	ENSP00000377197.2:p.Arg383Ter
ENST00000538248.5:c.1228C>T	ENSP00000444970.1:p.Arg410Ter
ENST00000539447.5:c.850C>T
ENST00000541601.5:c.1198C>T	ENSP00000437341.1:p.Arg400Ter
ENST00000545230.5:c.511C>T	ENSP00000463422.1:p.Arg171Ter
XM_006721206.2:c.1198C>T	XP_006721269.1:p.Arg400Ter
XM_006721206.3:c.1198C>T	XP_006721269.1:p.Arg400Ter
XM_011523146.1:c.1228C>T	XP_011521448.1:p.Arg410Ter
XM_011523146.2:c.1228C>T	XP_011521448.1:p.Arg410Ter
XM_011523147.1:c.1198C>T	XP_011521449.1:p.Arg400Ter
XM_011523148.1:c.1147C>T	XP_011521450.1:p.Arg383Ter
XM_011523149.1:c.1147C>T	XP_011521451.1:p.Arg383Ter
XM_011523150.1:c.1147C>T	XP_011521452.1:p.Arg383Ter
XM_011523151.1:c.1228C>T	XP_011521453.1:p.Arg410Ter
XM_011523151.2:c.1228C>T	XP_011521453.1:p.Arg410Ter
XM_017023346.2:c.1267C>T	XP_016878835.1:p.Arg423Ter