Canonical Allele Identifier: CA396621873

Gene: HYDIN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.71088301C>G , CM000678.2:g.71088301C>G	GRCh38
NC_000016.9:g.71122204C>G , CM000678.1:g.71122204C>G	GRCh37
NG_033116.1:g.147422G>C
NG_033116.2:g.147422G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001270974.2:c.1670G>C MANE Select	NP_001257903.1:p.Arg557Thr
ENST00000393567.7:c.1670G>C MANE Select	ENSP00000377197.2:p.Arg557Thr
NM_001198542.1:c.1751G>C	NP_001185471.1:p.Arg584Thr
NM_001198543.1:c.1721G>C	NP_001185472.1:p.Arg574Thr
NM_001270974.1:c.1670G>C	NP_001257903.1:p.Arg557Thr
NM_017558.4:c.1670G>C	NP_060028.2:p.Arg557Thr
NM_017558.5:c.1670G>C	NP_060028.2:p.Arg557Thr
ENST00000288168.14:c.1721G>C	ENSP00000288168.10:p.Arg574Thr
ENST00000321489.9:c.1670G>C	ENSP00000314736.5:p.Arg557Thr
ENST00000393552.6:c.524G>C	ENSP00000463767.1:p.Arg175Thr
ENST00000393567.6:c.1670G>C	ENSP00000377197.2:p.Arg557Thr
ENST00000538248.5:c.1751G>C	ENSP00000444970.1:p.Arg584Thr
ENST00000539447.5:c.1373G>C
ENST00000541601.5:c.1721G>C	ENSP00000437341.1:p.Arg574Thr
ENST00000545230.5:c.1034G>C	ENSP00000463422.1:p.Arg345Thr
XM_006721206.2:c.1721G>C	XP_006721269.1:p.Arg574Thr
XM_006721206.3:c.1721G>C	XP_006721269.1:p.Arg574Thr
XM_011523146.1:c.1751G>C	XP_011521448.1:p.Arg584Thr
XM_011523146.2:c.1751G>C	XP_011521448.1:p.Arg584Thr
XM_011523147.1:c.1721G>C	XP_011521449.1:p.Arg574Thr
XM_011523148.1:c.1670G>C	XP_011521450.1:p.Arg557Thr
XM_011523149.1:c.1670G>C	XP_011521451.1:p.Arg557Thr
XM_011523150.1:c.1670G>C	XP_011521452.1:p.Arg557Thr
XM_011523151.1:c.1751G>C	XP_011521453.1:p.Arg584Thr
XM_011523151.2:c.1751G>C	XP_011521453.1:p.Arg584Thr
XM_017023346.2:c.1790G>C	XP_016878835.1:p.Arg597Thr