Canonical Allele Identifier: CA354072654

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120351996T>A (hg19) ; chr3:g.120633149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633149T>A , CM000665.2:g.120633149T>A	GRCh38
NC_000003.11:g.120351996T>A , CM000665.1:g.120351996T>A	GRCh37
NC_000003.10:g.121834686T>A	NCBI36
NG_011957.1:g.54333A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1186A>T MANE Select	ENSP00000283871.5:p.Met396Leu
ENST00000283871.9:c.1186A>T	ENSP00000283871.5:p.Met396Leu
ENST00000470321.1:n.526A>T
ENST00000492108.5:c.465A>T	ENSP00000419838.1:n.465A>T
NM_000187.3:c.1186A>T	NP_000178.2:p.Met396Leu
XM_005247412.1:c.961A>T	XP_005247469.1:p.Met321Leu
XM_005247412.2:c.961A>T	XP_005247469.1:p.Met321Leu
XM_017006277.2:c.763A>T	XP_016861766.1:p.Met255Leu
NM_000187.4:c.1186A>T MANE Select	NP_000178.2:p.Met396Leu