Canonical Allele Identifier: CA545608561

Gene: HGD

Linked Data

• dbSNP Id: rs1340180431
• gnomAD v2: 3-120357441-A-G
• gnomAD v4: 3-120638594-A-G
• MyVariant Identifiers: chr3:g.120357441A>G (hg19) ; chr3:g.120638594A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638594A>G , CM000665.2:g.120638594A>G	GRCh38
NC_000003.11:g.120357441A>G , CM000665.1:g.120357441A>G	GRCh37
NC_000003.10:g.121840131A>G	NCBI36
NG_011957.1:g.48888T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-13T>C MANE Select	ENSP00000283871.5:n.880-13T>C
ENST00000283871.9:c.880-13T>C	ENSP00000283871.5:n.880-13T>C
ENST00000470321.1:n.220-13T>C
ENST00000475447.2:c.307+2995T>C
ENST00000492108.5:c.285+2995T>C	ENSP00000419838.1:n.285+2995T>C
ENST00000494453.1:c.300-13T>C
NM_000187.3:c.880-13T>C	NP_000178.2:n.880-13T>C
XM_005247412.1:c.655-13T>C	XP_005247469.1:n.655-13T>C
XM_005247413.1:c.880-13T>C	XP_005247470.1:n.880-13T>C
XM_011512746.1:c.879+2995T>C	XP_011511048.1:n.879+2995T>C
XM_005247412.2:c.655-13T>C	XP_005247469.1:n.655-13T>C
XM_005247413.2:c.880-13T>C	XP_005247470.1:n.880-13T>C
XM_011512746.2:c.879+2995T>C	XP_011511048.1:n.879+2995T>C
XM_017006277.2:c.457-13T>C	XP_016861766.1:n.457-13T>C
NM_000187.4:c.880-13T>C MANE Select	NP_000178.2:n.880-13T>C