Canonical Allele Identifier: CA354073657

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120357391A>G (hg19) ; chr3:g.120638544A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638544A>G , CM000665.2:g.120638544A>G	GRCh38
NC_000003.11:g.120357391A>G , CM000665.1:g.120357391A>G	GRCh37
NC_000003.10:g.121840081A>G	NCBI36
NG_011957.1:g.48938T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.917T>C MANE Select	ENSP00000283871.5:p.Val306Ala
ENST00000283871.9:c.917T>C	ENSP00000283871.5:p.Val306Ala
ENST00000470321.1:n.257T>C
ENST00000475447.2:c.307+3045T>C
ENST00000492108.5:c.285+3045T>C	ENSP00000419838.1:n.285+3045T>C
ENST00000494453.1:c.337T>C
NM_000187.3:c.917T>C	NP_000178.2:p.Val306Ala
XM_005247412.1:c.692T>C	XP_005247469.1:p.Val231Ala
XM_005247413.1:c.917T>C	XP_005247470.1:p.Val306Ala
XM_011512746.1:c.879+3045T>C	XP_011511048.1:n.879+3045T>C
XM_005247412.2:c.692T>C	XP_005247469.1:p.Val231Ala
XM_005247413.2:c.917T>C	XP_005247470.1:p.Val306Ala
XM_011512746.2:c.879+3045T>C	XP_011511048.1:n.879+3045T>C
XM_017006277.2:c.494T>C	XP_016861766.1:p.Val165Ala
NM_000187.4:c.917T>C MANE Select	NP_000178.2:p.Val306Ala