Canonical Allele Identifier: CA435227504

Gene: HGD

Linked Data

• gnomAD v4: 3-120638560-A-G
• MyVariant Identifiers: chr3:g.120357407A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638560A>G , CM000665.2:g.120638560A>G	GRCh38
NC_000003.11:g.120357407A>G , CM000665.1:g.120357407A>G	GRCh37
NC_000003.10:g.121840097A>G	NCBI36
NG_011957.1:g.48922T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.901T>C MANE Select	ENSP00000283871.5:p.Leu301=
ENST00000283871.9:c.901T>C	ENSP00000283871.5:p.Leu301=
ENST00000470321.1:n.241T>C
ENST00000475447.2:c.307+3029T>C
ENST00000492108.5:c.285+3029T>C	ENSP00000419838.1:n.285+3029T>C
ENST00000494453.1:c.321T>C
NM_000187.3:c.901T>C	NP_000178.2:p.Leu301=
XM_005247412.1:c.676T>C	XP_005247469.1:p.Leu226=
XM_005247413.1:c.901T>C	XP_005247470.1:p.Leu301=
XM_011512746.1:c.879+3029T>C	XP_011511048.1:n.879+3029T>C
XM_005247412.2:c.676T>C	XP_005247469.1:p.Leu226=
XM_005247413.2:c.901T>C	XP_005247470.1:p.Leu301=
XM_011512746.2:c.879+3029T>C	XP_011511048.1:n.879+3029T>C
XM_017006277.2:c.478T>C	XP_016861766.1:p.Leu160=
NM_000187.4:c.901T>C MANE Select	NP_000178.2:p.Leu301=