Canonical Allele Identifier: CA435227486

Gene: HGD

Linked Data

• gnomAD v4: 3-120638537-A-G
• MyVariant Identifiers: chr3:g.120357384A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638537A>G , CM000665.2:g.120638537A>G	GRCh38
NC_000003.11:g.120357384A>G , CM000665.1:g.120357384A>G	GRCh37
NC_000003.10:g.121840074A>G	NCBI36
NG_011957.1:g.48945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.924T>C MANE Select	ENSP00000283871.5:p.Pro308=
ENST00000283871.9:c.924T>C	ENSP00000283871.5:p.Pro308=
ENST00000470321.1:n.264T>C
ENST00000475447.2:c.307+3052T>C
ENST00000492108.5:c.285+3052T>C	ENSP00000419838.1:n.285+3052T>C
ENST00000494453.1:c.344T>C
NM_000187.3:c.924T>C	NP_000178.2:p.Pro308=
XM_005247412.1:c.699T>C	XP_005247469.1:p.Pro233=
XM_005247413.1:c.924T>C	XP_005247470.1:p.Pro308=
XM_011512746.1:c.879+3052T>C	XP_011511048.1:n.879+3052T>C
XM_005247412.2:c.699T>C	XP_005247469.1:p.Pro233=
XM_005247413.2:c.924T>C	XP_005247470.1:p.Pro308=
XM_011512746.2:c.879+3052T>C	XP_011511048.1:n.879+3052T>C
XM_017006277.2:c.501T>C	XP_016861766.1:p.Pro167=
NM_000187.4:c.924T>C MANE Select	NP_000178.2:p.Pro308=