Canonical Allele Identifier: CA354078016

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650795C>T , CM000665.2:g.120650795C>T	GRCh38
NC_000003.11:g.120369642C>T , CM000665.1:g.120369642C>T	GRCh37
NC_000003.10:g.121852332C>T	NCBI36
NG_011957.1:g.36687G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.413G>A MANE Select	NP_000178.2:p.Cys138Tyr
ENST00000283871.10:c.413G>A MANE Select	ENSP00000283871.5:p.Cys138Tyr
NM_000187.3:c.413G>A	NP_000178.2:p.Cys138Tyr
ENST00000283871.9:c.413G>A	ENSP00000283871.5:p.Cys138Tyr
ENST00000476082.2:c.290G>A	ENSP00000419560.2:p.Cys97Tyr
ENST00000485313.5:n.521G>A
ENST00000492108.5:c.44G>A	ENSP00000419838.1:p.Cys15Tyr
XM_005247412.1:c.413G>A	XP_005247469.1:p.Cys138Tyr
XM_005247412.2:c.413G>A	XP_005247469.1:p.Cys138Tyr
XM_005247413.1:c.413G>A	XP_005247470.1:p.Cys138Tyr
XM_005247413.2:c.413G>A	XP_005247470.1:p.Cys138Tyr
XM_005247414.3:c.413G>A	XP_005247471.1:p.Cys138Tyr
XM_005247414.5:c.413G>A	XP_005247471.1:p.Cys138Tyr
XM_011512746.1:c.413G>A	XP_011511048.1:p.Cys138Tyr
XM_011512746.2:c.413G>A	XP_011511048.1:p.Cys138Tyr
XM_017006277.2:c.-11G>A	XP_016861766.1:n.-11G>A