Canonical Allele Identifier: CA16040890

Gene: HGD

Linked Data

• ClinVar Variation Id: 370198
• ClinVar RCV Id: RCV000411569
• dbSNP Id: rs1057516307
• gnomAD v4: 3-120646265-A-G
• COSMIC: COSM4392544
• MyVariant Identifiers: chr3:g.120365112A>G (hg19) ; chr3:g.120646265A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646265A>G , CM000665.2:g.120646265A>G	GRCh38
NC_000003.11:g.120365112A>G , CM000665.1:g.120365112A>G	GRCh37
NC_000003.10:g.121847802A>G	NCBI36
NG_011957.1:g.41217T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.649+2T>C MANE Select	ENSP00000283871.5:n.649+2T>C
ENST00000283871.9:c.649+2T>C	ENSP00000283871.5:n.649+2T>C
ENST00000475447.2:c.180+2T>C
ENST00000492108.5:c.180+708T>C	ENSP00000419838.1:n.180+708T>C
ENST00000494453.1:c.69+2T>C
NM_000187.3:c.649+2T>C	NP_000178.2:n.649+2T>C
XM_005247412.1:c.549+708T>C	XP_005247469.1:n.549+708T>C
XM_005247413.1:c.649+2T>C	XP_005247470.1:n.649+2T>C
XM_005247414.3:c.649+2T>C	XP_005247471.1:n.649+2T>C
XM_011512746.1:c.649+2T>C	XP_011511048.1:n.649+2T>C
XM_005247412.2:c.549+708T>C	XP_005247469.1:n.549+708T>C
XM_005247413.2:c.649+2T>C	XP_005247470.1:n.649+2T>C
XM_005247414.5:c.649+2T>C	XP_005247471.1:n.649+2T>C
XM_011512746.2:c.649+2T>C	XP_011511048.1:n.649+2T>C
XM_017006277.2:c.226+2T>C	XP_016861766.1:n.226+2T>C
NM_000187.4:c.649+2T>C MANE Select	NP_000178.2:n.649+2T>C