Canonical Allele Identifier: CA354081580

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670524T>C , CM000665.2:g.120670524T>C	GRCh38
NC_000003.11:g.120389371T>C , CM000665.1:g.120389371T>C	GRCh37
NC_000003.10:g.121872061T>C	NCBI36
NG_011957.1:g.16958A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.185A>G MANE Select	NP_000178.2:p.Tyr62Cys
ENST00000283871.10:c.185A>G MANE Select	ENSP00000283871.5:p.Tyr62Cys
NM_000187.3:c.185A>G	NP_000178.2:p.Tyr62Cys
ENST00000283871.9:c.185A>G	ENSP00000283871.5:p.Tyr62Cys
ENST00000466528.5:n.211A>G
ENST00000476082.2:c.62A>G	ENSP00000419560.2:p.Tyr21Cys
ENST00000485313.5:n.293A>G
ENST00000488183.5:n.443A>G
XM_005247412.1:c.185A>G	XP_005247469.1:p.Tyr62Cys
XM_005247412.2:c.185A>G	XP_005247469.1:p.Tyr62Cys
XM_005247413.1:c.185A>G	XP_005247470.1:p.Tyr62Cys
XM_005247413.2:c.185A>G	XP_005247470.1:p.Tyr62Cys
XM_005247414.3:c.185A>G	XP_005247471.1:p.Tyr62Cys
XM_005247414.5:c.185A>G	XP_005247471.1:p.Tyr62Cys
XM_011512746.1:c.185A>G	XP_011511048.1:p.Tyr62Cys
XM_011512746.2:c.185A>G	XP_011511048.1:p.Tyr62Cys
XM_017006277.2:c.-239A>G	XP_016861766.1:n.-239A>G