Canonical Allele Identifier: CA354081961

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120393773A>G (hg19) ; chr3:g.120674926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120674926A>G , CM000665.2:g.120674926A>G	GRCh38
NC_000003.11:g.120393773A>G , CM000665.1:g.120393773A>G	GRCh37
NC_000003.10:g.121876463A>G	NCBI36
NG_011957.1:g.12556T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.151T>C MANE Select	ENSP00000283871.5:p.Cys51Arg
ENST00000283871.9:c.151T>C	ENSP00000283871.5:p.Cys51Arg
ENST00000466528.5:n.177T>C
ENST00000476082.2:c.53+866T>C	ENSP00000419560.2:n.53+866T>C
ENST00000480862.1:n.309T>C
ENST00000485313.5:n.259T>C
ENST00000488183.5:n.409T>C
NM_000187.3:c.151T>C	NP_000178.2:p.Cys51Arg
XM_005247412.1:c.151T>C	XP_005247469.1:p.Cys51Arg
XM_005247413.1:c.151T>C	XP_005247470.1:p.Cys51Arg
XM_005247414.3:c.151T>C	XP_005247471.1:p.Cys51Arg
XM_011512746.1:c.151T>C	XP_011511048.1:p.Cys51Arg
XM_005247412.2:c.151T>C	XP_005247469.1:p.Cys51Arg
XM_005247413.2:c.151T>C	XP_005247470.1:p.Cys51Arg
XM_005247414.5:c.151T>C	XP_005247471.1:p.Cys51Arg
XM_011512746.2:c.151T>C	XP_011511048.1:p.Cys51Arg
XM_017006277.2:c.-273T>C	XP_016861766.1:n.-273T>C
NM_000187.4:c.151T>C MANE Select	NP_000178.2:p.Cys51Arg