Canonical Allele Identifier: CA283534312

Gene: HYDIN

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.71060638C>T , CM000678.2:g.71060638C>T	GRCh38
NC_000016.9:g.71094541C>T , CM000678.1:g.71094541C>T	GRCh37
NG_033116.1:g.175085G>A
NG_033116.2:g.175085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393567.7:c.2395G>A MANE Select	ENSP00000377197.2:p.Ala799Thr
ENST00000321489.9:c.2395G>A	ENSP00000314736.5:p.Ala799Thr
ENST00000393552.6:c.1249G>A	ENSP00000463767.1:p.Ala417Thr
ENST00000393567.6:c.2395G>A	ENSP00000377197.2:p.Ala799Thr
ENST00000538248.5:c.2476G>A	ENSP00000444970.1:p.Ala826Thr
ENST00000539447.5:c.2098G>A
ENST00000540892.1:n.883G>A
ENST00000541601.5:c.2446G>A	ENSP00000437341.1:p.Ala816Thr
ENST00000545230.5:c.1955G>A	ENSP00000463422.1:n.1955G>A
NM_001198542.1:c.2476G>A	NP_001185471.1:p.Ala826Thr
NM_001198543.1:c.2446G>A	NP_001185472.1:p.Ala816Thr
NM_001270974.1:c.2395G>A	NP_001257903.1:p.Ala799Thr
NM_017558.4:c.2395G>A	NP_060028.2:p.Ala799Thr
XM_006721206.2:c.2446G>A	XP_006721269.1:p.Ala816Thr
XM_011523146.1:c.2578G>A	XP_011521448.1:p.Ala860Thr
XM_011523147.1:c.2548G>A	XP_011521449.1:p.Ala850Thr
XM_011523148.1:c.2497G>A	XP_011521450.1:p.Ala833Thr
XM_011523149.1:c.2497G>A	XP_011521451.1:p.Ala833Thr
XM_011523150.1:c.2497G>A	XP_011521452.1:p.Ala833Thr
XM_011523151.1:c.2476G>A	XP_011521453.1:p.Ala826Thr
NM_001270974.2:c.2395G>A MANE Select	NP_001257903.1:p.Ala799Thr
XM_006721206.3:c.2446G>A	XP_006721269.1:p.Ala816Thr
XM_011523146.2:c.2578G>A	XP_011521448.1:p.Ala860Thr
XM_011523151.2:c.2476G>A	XP_011521453.1:p.Ala826Thr
XM_017023346.2:c.2515G>A	XP_016878835.1:p.Ala839Thr
XM_017023347.1:c.607G>A	XP_016878836.1:p.Ala203Thr
XM_017023348.1:c.607G>A	XP_016878837.1:p.Ala203Thr
NM_017558.5:c.2395G>A	NP_060028.2:p.Ala799Thr