Canonical Allele Identifier: CA354078069

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120369666C>G (hg19) ; chr3:g.120650819C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650819C>G , CM000665.2:g.120650819C>G	GRCh38
NC_000003.11:g.120369666C>G , CM000665.1:g.120369666C>G	GRCh37
NC_000003.10:g.121852356C>G	NCBI36
NG_011957.1:g.36663G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.389G>C MANE Select	ENSP00000283871.5:p.Gly130Ala
ENST00000283871.9:c.389G>C	ENSP00000283871.5:p.Gly130Ala
ENST00000476082.2:c.266G>C	ENSP00000419560.2:p.Gly89Ala
ENST00000485313.5:n.497G>C
ENST00000492108.5:c.20G>C	ENSP00000419838.1:p.Gly7Ala
NM_000187.3:c.389G>C	NP_000178.2:p.Gly130Ala
XM_005247412.1:c.389G>C	XP_005247469.1:p.Gly130Ala
XM_005247413.1:c.389G>C	XP_005247470.1:p.Gly130Ala
XM_005247414.3:c.389G>C	XP_005247471.1:p.Gly130Ala
XM_011512746.1:c.389G>C	XP_011511048.1:p.Gly130Ala
XM_005247412.2:c.389G>C	XP_005247469.1:p.Gly130Ala
XM_005247413.2:c.389G>C	XP_005247470.1:p.Gly130Ala
XM_005247414.5:c.389G>C	XP_005247471.1:p.Gly130Ala
XM_011512746.2:c.389G>C	XP_011511048.1:p.Gly130Ala
XM_017006277.2:c.-35G>C	XP_016861766.1:n.-35G>C
NM_000187.4:c.389G>C MANE Select	NP_000178.2:p.Gly130Ala