Canonical Allele Identifier: CA2667171073

Gene: HGD

Linked Data

• gnomAD v4: 3-120638633-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638633A>G , CM000665.2:g.120638633A>G	GRCh38
NC_000003.11:g.120357480A>G , CM000665.1:g.120357480A>G	GRCh37
NC_000003.10:g.121840170A>G	NCBI36
NG_011957.1:g.48849T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.880-52T>C MANE Select	ENSP00000283871.5:n.880-52T>C
ENST00000283871.9:c.880-52T>C	ENSP00000283871.5:n.880-52T>C
ENST00000470321.1:n.220-52T>C
ENST00000475447.2:c.307+2956T>C
ENST00000492108.5:c.285+2956T>C	ENSP00000419838.1:n.285+2956T>C
ENST00000494453.1:c.300-52T>C
NM_000187.3:c.880-52T>C	NP_000178.2:n.880-52T>C
XM_005247412.1:c.655-52T>C	XP_005247469.1:n.655-52T>C
XM_005247413.1:c.880-52T>C	XP_005247470.1:n.880-52T>C
XM_011512746.1:c.879+2956T>C	XP_011511048.1:n.879+2956T>C
XM_005247412.2:c.655-52T>C	XP_005247469.1:n.655-52T>C
XM_005247413.2:c.880-52T>C	XP_005247470.1:n.880-52T>C
XM_011512746.2:c.879+2956T>C	XP_011511048.1:n.879+2956T>C
XM_017006277.2:c.457-52T>C	XP_016861766.1:n.457-52T>C
NM_000187.4:c.880-52T>C MANE Select	NP_000178.2:n.880-52T>C