Canonical Allele Identifier: CA354076791

Gene: HGD

Linked Data

• dbSNP Id: rs1373813495
• gnomAD v2: 3-120365198-T-C
• MyVariant Identifiers: chr3:g.120365198T>C (hg19) ; chr3:g.120646351T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646351T>C , CM000665.2:g.120646351T>C	GRCh38
NC_000003.11:g.120365198T>C , CM000665.1:g.120365198T>C	GRCh37
NC_000003.10:g.121847888T>C	NCBI36
NG_011957.1:g.41131A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.565A>G MANE Select	ENSP00000283871.5:p.Ser189Gly
ENST00000283871.9:c.565A>G	ENSP00000283871.5:p.Ser189Gly
ENST00000475447.2:c.96A>G
ENST00000492108.5:c.180+622A>G	ENSP00000419838.1:n.180+622A>G
NM_000187.3:c.565A>G	NP_000178.2:p.Ser189Gly
XM_005247412.1:c.549+622A>G	XP_005247469.1:n.549+622A>G
XM_005247413.1:c.565A>G	XP_005247470.1:p.Ser189Gly
XM_005247414.3:c.565A>G	XP_005247471.1:p.Ser189Gly
XM_011512746.1:c.565A>G	XP_011511048.1:p.Ser189Gly
XM_005247412.2:c.549+622A>G	XP_005247469.1:n.549+622A>G
XM_005247413.2:c.565A>G	XP_005247470.1:p.Ser189Gly
XM_005247414.5:c.565A>G	XP_005247471.1:p.Ser189Gly
XM_011512746.2:c.565A>G	XP_011511048.1:p.Ser189Gly
XM_017006277.2:c.142A>G	XP_016861766.1:p.Ser48Gly
NM_000187.4:c.565A>G MANE Select	NP_000178.2:p.Ser189Gly