Canonical Allele Identifier: CA2559963

Gene: HGD

Linked Data

• dbSNP Id: rs769091766
• ExAC: 3:120352028 T / G
• gnomAD v2: 3-120352028-T-G
• gnomAD v4: 3-120633181-T-G
• MyVariant Identifiers: chr3:g.120352028T>G (hg19) ; chr3:g.120633181T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633181T>G , CM000665.2:g.120633181T>G	GRCh38
NC_000003.11:g.120352028T>G , CM000665.1:g.120352028T>G	GRCh37
NC_000003.10:g.121834718T>G	NCBI36
NG_011957.1:g.54301A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1154A>C MANE Select	ENSP00000283871.5:p.Lys385Thr
ENST00000283871.9:c.1154A>C	ENSP00000283871.5:p.Lys385Thr
ENST00000470321.1:n.494A>C
ENST00000492108.5:c.433A>C	ENSP00000419838.1:n.433A>C
NM_000187.3:c.1154A>C	NP_000178.2:p.Lys385Thr
XM_005247412.1:c.929A>C	XP_005247469.1:p.Lys310Thr
XM_005247412.2:c.929A>C	XP_005247469.1:p.Lys310Thr
XM_017006277.2:c.731A>C	XP_016861766.1:p.Lys244Thr
NM_000187.4:c.1154A>C MANE Select	NP_000178.2:p.Lys385Thr