Canonical Allele Identifier: CA435228374

Gene: HGD

Linked Data

• COSMIC: COSM6054840
• MyVariant Identifiers: chr3:g.120369665C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120650818C>G , CM000665.2:g.120650818C>G	GRCh38
NC_000003.11:g.120369665C>G , CM000665.1:g.120369665C>G	GRCh37
NC_000003.10:g.121852355C>G	NCBI36
NG_011957.1:g.36664G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.390G>C MANE Select	ENSP00000283871.5:p.Gly130=
ENST00000283871.9:c.390G>C	ENSP00000283871.5:p.Gly130=
ENST00000476082.2:c.267G>C	ENSP00000419560.2:p.Gly89=
ENST00000485313.5:n.498G>C
ENST00000492108.5:c.21G>C	ENSP00000419838.1:p.Gly7=
NM_000187.3:c.390G>C	NP_000178.2:p.Gly130=
XM_005247412.1:c.390G>C	XP_005247469.1:p.Gly130=
XM_005247413.1:c.390G>C	XP_005247470.1:p.Gly130=
XM_005247414.3:c.390G>C	XP_005247471.1:p.Gly130=
XM_011512746.1:c.390G>C	XP_011511048.1:p.Gly130=
XM_005247412.2:c.390G>C	XP_005247469.1:p.Gly130=
XM_005247413.2:c.390G>C	XP_005247470.1:p.Gly130=
XM_005247414.5:c.390G>C	XP_005247471.1:p.Gly130=
XM_011512746.2:c.390G>C	XP_011511048.1:p.Gly130=
XM_017006277.2:c.-34G>C	XP_016861766.1:n.-34G>C
NM_000187.4:c.390G>C MANE Select	NP_000178.2:p.Gly130=