Canonical Allele Identifier: CA1052819090

Gene: HGD

Linked Data

• dbSNP Id: rs1940845620
• gnomAD v3: 3-120638247-T-C
• gnomAD v4: 3-120638247-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638247T>C , CM000665.2:g.120638247T>C	GRCh38
NC_000003.11:g.120357094T>C , CM000665.1:g.120357094T>C	GRCh37
NC_000003.10:g.121839784T>C	NCBI36
NG_011957.1:g.49235A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.1006+208A>G MANE Select	ENSP00000283871.5:n.1006+208A>G
ENST00000283871.9:c.1006+208A>G	ENSP00000283871.5:n.1006+208A>G
ENST00000470321.1:n.346+208A>G
ENST00000475447.2:c.307+3342A>G
ENST00000492108.5:c.285+3342A>G	ENSP00000419838.1:n.285+3342A>G
ENST00000494453.1:c.426+208A>G
NM_000187.3:c.1006+208A>G	NP_000178.2:n.1006+208A>G
XM_005247412.1:c.781+208A>G	XP_005247469.1:n.781+208A>G
XM_005247413.1:c.1006+208A>G	XP_005247470.1:n.1006+208A>G
XM_011512746.1:c.879+3342A>G	XP_011511048.1:n.879+3342A>G
XM_005247412.2:c.781+208A>G	XP_005247469.1:n.781+208A>G
XM_005247413.2:c.1006+208A>G	XP_005247470.1:n.1006+208A>G
XM_011512746.2:c.879+3342A>G	XP_011511048.1:n.879+3342A>G
XM_017006277.2:c.583+208A>G	XP_016861766.1:n.583+208A>G
NM_000187.4:c.1006+208A>G MANE Select	NP_000178.2:n.1006+208A>G