Canonical Allele Identifier: CA354072714

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120352026G>T (hg19) ; chr3:g.120633179G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633179G>T , CM000665.2:g.120633179G>T	GRCh38
NC_000003.11:g.120352026G>T , CM000665.1:g.120352026G>T	GRCh37
NC_000003.10:g.121834716G>T	NCBI36
NG_011957.1:g.54303C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1156C>A MANE Select	ENSP00000283871.5:p.Leu386Met
ENST00000283871.9:c.1156C>A	ENSP00000283871.5:p.Leu386Met
ENST00000470321.1:n.496C>A
ENST00000492108.5:c.435C>A	ENSP00000419838.1:n.435C>A
NM_000187.3:c.1156C>A	NP_000178.2:p.Leu386Met
XM_005247412.1:c.931C>A	XP_005247469.1:p.Leu311Met
XM_005247412.2:c.931C>A	XP_005247469.1:p.Leu311Met
XM_017006277.2:c.733C>A	XP_016861766.1:p.Leu245Met
NM_000187.4:c.1156C>A MANE Select	NP_000178.2:p.Leu386Met