Canonical Allele Identifier: CA354072927

Gene: HGD

Linked Data

• ClinVar Variation Id: 2627690
• ClinVar RCV Id: RCV003388984
• dbSNP Id: rs1274142542
• gnomAD v4: 3-120633278-T-G
• MyVariant Identifiers: chr3:g.120352125T>G (hg19) ; chr3:g.120633278T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633278T>G , CM000665.2:g.120633278T>G	GRCh38
NC_000003.11:g.120352125T>G , CM000665.1:g.120352125T>G	GRCh37
NC_000003.10:g.121834815T>G	NCBI36
NG_011957.1:g.54204A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1057A>C MANE Select	ENSP00000283871.5:p.Lys353Gln
ENST00000283871.9:c.1057A>C	ENSP00000283871.5:p.Lys353Gln
ENST00000470321.1:n.397A>C
ENST00000492108.5:c.336A>C	ENSP00000419838.1:n.336A>C
NM_000187.3:c.1057A>C	NP_000178.2:p.Lys353Gln
XM_005247412.1:c.832A>C	XP_005247469.1:p.Lys278Gln
XM_005247412.2:c.832A>C	XP_005247469.1:p.Lys278Gln
XM_017006277.2:c.634A>C	XP_016861766.1:p.Lys212Gln
NM_000187.4:c.1057A>C MANE Select	NP_000178.2:p.Lys353Gln