Canonical Allele Identifier: CA897956507

Gene: HGD

Linked Data

• dbSNP Id: rs1219708630
• gnomAD v3: 3-120646106-A-G
• gnomAD v4: 3-120646106-A-G
• MyVariant Identifiers: chr3:g.120364953A>G (hg19) ; chr3:g.120646106A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120646106A>G , CM000665.2:g.120646106A>G	GRCh38
NC_000003.11:g.120364953A>G , CM000665.1:g.120364953A>G	GRCh37
NC_000003.10:g.121847643A>G	NCBI36
NG_011957.1:g.41376T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.649+161T>C MANE Select	ENSP00000283871.5:n.649+161T>C
ENST00000283871.9:c.649+161T>C	ENSP00000283871.5:n.649+161T>C
ENST00000475447.2:c.180+161T>C
ENST00000492108.5:c.180+867T>C	ENSP00000419838.1:n.180+867T>C
ENST00000494453.1:c.69+161T>C
NM_000187.3:c.649+161T>C	NP_000178.2:n.649+161T>C
XM_005247412.1:c.549+867T>C	XP_005247469.1:n.549+867T>C
XM_005247413.1:c.649+161T>C	XP_005247470.1:n.649+161T>C
XM_005247414.3:c.649+161T>C	XP_005247471.1:n.649+161T>C
XM_011512746.1:c.649+161T>C	XP_011511048.1:n.649+161T>C
XM_005247412.2:c.549+867T>C	XP_005247469.1:n.549+867T>C
XM_005247413.2:c.649+161T>C	XP_005247470.1:n.649+161T>C
XM_005247414.5:c.649+161T>C	XP_005247471.1:n.649+161T>C
XM_011512746.2:c.649+161T>C	XP_011511048.1:n.649+161T>C
XM_017006277.2:c.226+161T>C	XP_016861766.1:n.226+161T>C
NM_000187.4:c.649+161T>C MANE Select	NP_000178.2:n.649+161T>C