Canonical Allele Identifier: CA354072914

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120352120T>G (hg19) ; chr3:g.120633273T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633273T>G , CM000665.2:g.120633273T>G	GRCh38
NC_000003.11:g.120352120T>G , CM000665.1:g.120352120T>G	GRCh37
NC_000003.10:g.121834810T>G	NCBI36
NG_011957.1:g.54209A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1062A>C MANE Select	ENSP00000283871.5:p.Gln354His
ENST00000283871.9:c.1062A>C	ENSP00000283871.5:p.Gln354His
ENST00000470321.1:n.402A>C
ENST00000492108.5:c.341A>C	ENSP00000419838.1:n.341A>C
NM_000187.3:c.1062A>C	NP_000178.2:p.Gln354His
XM_005247412.1:c.837A>C	XP_005247469.1:p.Gln279His
XM_005247412.2:c.837A>C	XP_005247469.1:p.Gln279His
XM_017006277.2:c.639A>C	XP_016861766.1:p.Gln213His
NM_000187.4:c.1062A>C MANE Select	NP_000178.2:p.Gln354His