Canonical Allele Identifier: CA2560376

Gene: HGD

Linked Data

• dbSNP Id: rs767692484
• ExAC: 3:120394639 C / G
• gnomAD v2: 3-120394639-C-G
• gnomAD v4: 3-120675792-C-G
• MyVariant Identifiers: chr3:g.120394639C>G (hg19) ; chr3:g.120675792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120675792C>G , CM000665.2:g.120675792C>G	GRCh38
NC_000003.11:g.120394639C>G , CM000665.1:g.120394639C>G	GRCh37
NC_000003.10:g.121877329C>G	NCBI36
NG_011957.1:g.11690G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.87G>C MANE Select	ENSP00000283871.5:p.Gln29His
ENST00000283871.9:c.87G>C	ENSP00000283871.5:p.Gln29His
ENST00000466528.5:n.113G>C
ENST00000476082.2:c.53G>C	ENSP00000419560.2:p.Ser18Thr
ENST00000480862.1:n.245G>C
ENST00000485313.5:n.195G>C
ENST00000488183.5:n.345G>C
NM_000187.3:c.87G>C	NP_000178.2:p.Gln29His
XM_005247412.1:c.87G>C	XP_005247469.1:p.Gln29His
XM_005247413.1:c.87G>C	XP_005247470.1:p.Gln29His
XM_005247414.3:c.87G>C	XP_005247471.1:p.Gln29His
XM_011512746.1:c.87G>C	XP_011511048.1:p.Gln29His
XM_005247412.2:c.87G>C	XP_005247469.1:p.Gln29His
XM_005247413.2:c.87G>C	XP_005247470.1:p.Gln29His
XM_005247414.5:c.87G>C	XP_005247471.1:p.Gln29His
XM_011512746.2:c.87G>C	XP_011511048.1:p.Gln29His
XM_017006277.2:c.-337G>C	XP_016861766.1:n.-337G>C
NM_000187.4:c.87G>C MANE Select	NP_000178.2:p.Gln29His