Canonical Allele Identifier: CA2559964

Gene: HGD

Linked Data

• dbSNP Id: rs774858137
• ExAC: 3:120352030 G / A
• gnomAD v2: 3-120352030-G-A
• gnomAD v3: 3-120633183-G-A
• gnomAD v4: 3-120633183-G-A
• MyVariant Identifiers: chr3:g.120352030G>A (hg19) ; chr3:g.120633183G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633183G>A , CM000665.2:g.120633183G>A	GRCh38
NC_000003.11:g.120352030G>A , CM000665.1:g.120352030G>A	GRCh37
NC_000003.10:g.121834720G>A	NCBI36
NG_011957.1:g.54299C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1152C>T MANE Select	ENSP00000283871.5:p.Val384=
ENST00000283871.9:c.1152C>T	ENSP00000283871.5:p.Val384=
ENST00000470321.1:n.492C>T
ENST00000492108.5:c.431C>T	ENSP00000419838.1:n.431C>T
NM_000187.3:c.1152C>T	NP_000178.2:p.Val384=
XM_005247412.1:c.927C>T	XP_005247469.1:p.Val309=
XM_005247412.2:c.927C>T	XP_005247469.1:p.Val309=
XM_017006277.2:c.729C>T	XP_016861766.1:p.Val243=
NM_000187.4:c.1152C>T MANE Select	NP_000178.2:p.Val384=