Canonical Allele Identifier: CA354072831

Gene: HGD

Linked Data

• dbSNP Id: rs1315397365
• gnomAD v2: 3-120352078-C-T
• gnomAD v4: 3-120633231-C-T
• MyVariant Identifiers: chr3:g.120352078C>T (hg19) ; chr3:g.120633231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633231C>T , CM000665.2:g.120633231C>T	GRCh38
NC_000003.11:g.120352078C>T , CM000665.1:g.120352078C>T	GRCh37
NC_000003.10:g.121834768C>T	NCBI36
NG_011957.1:g.54251G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1104G>A MANE Select	ENSP00000283871.5:p.Met368Ile
ENST00000283871.9:c.1104G>A	ENSP00000283871.5:p.Met368Ile
ENST00000470321.1:n.444G>A
ENST00000492108.5:c.383G>A	ENSP00000419838.1:n.383G>A
NM_000187.3:c.1104G>A	NP_000178.2:p.Met368Ile
XM_005247412.1:c.879G>A	XP_005247469.1:p.Met293Ile
XM_005247412.2:c.879G>A	XP_005247469.1:p.Met293Ile
XM_017006277.2:c.681G>A	XP_016861766.1:p.Met227Ile
NM_000187.4:c.1104G>A MANE Select	NP_000178.2:p.Met368Ile