Canonical Allele Identifier: CA1052820566

Gene: HGD

Linked Data

• dbSNP Id: rs1940978839
• gnomAD v3: 3-120641521-G-T
• gnomAD v4: 3-120641521-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120641521G>T , CM000665.2:g.120641521G>T	GRCh38
NC_000003.11:g.120360368G>T , CM000665.1:g.120360368G>T	GRCh37
NC_000003.10:g.121843058G>T	NCBI36
NG_011957.1:g.45961C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.879+68C>A MANE Select	ENSP00000283871.5:n.879+68C>A
ENST00000283871.9:c.879+68C>A	ENSP00000283871.5:n.879+68C>A
ENST00000470321.1:n.219+68C>A
ENST00000475447.2:c.307+68C>A
ENST00000492108.5:c.285+68C>A	ENSP00000419838.1:n.285+68C>A
ENST00000494453.1:c.299+68C>A
NM_000187.3:c.879+68C>A	NP_000178.2:n.879+68C>A
XM_005247412.1:c.654+68C>A	XP_005247469.1:n.654+68C>A
XM_005247413.1:c.879+68C>A	XP_005247470.1:n.879+68C>A
XM_011512746.1:c.879+68C>A	XP_011511048.1:n.879+68C>A
XM_005247412.2:c.654+68C>A	XP_005247469.1:n.654+68C>A
XM_005247413.2:c.879+68C>A	XP_005247470.1:n.879+68C>A
XM_011512746.2:c.879+68C>A	XP_011511048.1:n.879+68C>A
XM_017006277.2:c.456+68C>A	XP_016861766.1:n.456+68C>A
NM_000187.4:c.879+68C>A MANE Select	NP_000178.2:n.879+68C>A