Canonical Allele Identifier: CA2560051

Gene: HGD

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641636T>C , CM000665.2:g.120641636T>C	GRCh38
NC_000003.11:g.120360483T>C , CM000665.1:g.120360483T>C	GRCh37
NC_000003.10:g.121843173T>C	NCBI36
NG_011957.1:g.45846A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000187.4:c.832A>G MANE Select	NP_000178.2:p.Asn278Asp
ENST00000283871.10:c.832A>G MANE Select	ENSP00000283871.5:p.Asn278Asp
NM_000187.3:c.832A>G	NP_000178.2:p.Asn278Asp
ENST00000283871.9:c.832A>G	ENSP00000283871.5:p.Asn278Asp
ENST00000470321.1:n.172A>G
ENST00000475447.2:c.260A>G
ENST00000492108.5:c.238A>G	ENSP00000419838.1:p.Asn80Asp
ENST00000494453.1:c.252A>G
XM_005247412.1:c.607A>G	XP_005247469.1:p.Asn203Asp
XM_005247412.2:c.607A>G	XP_005247469.1:p.Asn203Asp
XM_005247413.1:c.832A>G	XP_005247470.1:p.Asn278Asp
XM_005247413.2:c.832A>G	XP_005247470.1:p.Asn278Asp
XM_011512746.1:c.832A>G	XP_011511048.1:p.Asn278Asp
XM_011512746.2:c.832A>G	XP_011511048.1:p.Asn278Asp
XM_017006277.2:c.409A>G	XP_016861766.1:p.Asn137Asp