Canonical Allele Identifier: CA354081530

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120389362A>C (hg19) ; chr3:g.120670515A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120670515A>C , CM000665.2:g.120670515A>C	GRCh38
NC_000003.11:g.120389362A>C , CM000665.1:g.120389362A>C	GRCh37
NC_000003.10:g.121872052A>C	NCBI36
NG_011957.1:g.16967T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.194T>G MANE Select	ENSP00000283871.5:p.Leu65Arg
ENST00000283871.9:c.194T>G	ENSP00000283871.5:p.Leu65Arg
ENST00000466528.5:n.220T>G
ENST00000476082.2:c.71T>G	ENSP00000419560.2:p.Leu24Arg
ENST00000485313.5:n.302T>G
ENST00000488183.5:n.452T>G
NM_000187.3:c.194T>G	NP_000178.2:p.Leu65Arg
XM_005247412.1:c.194T>G	XP_005247469.1:p.Leu65Arg
XM_005247413.1:c.194T>G	XP_005247470.1:p.Leu65Arg
XM_005247414.3:c.194T>G	XP_005247471.1:p.Leu65Arg
XM_011512746.1:c.194T>G	XP_011511048.1:p.Leu65Arg
XM_005247412.2:c.194T>G	XP_005247469.1:p.Leu65Arg
XM_005247413.2:c.194T>G	XP_005247470.1:p.Leu65Arg
XM_005247414.5:c.194T>G	XP_005247471.1:p.Leu65Arg
XM_011512746.2:c.194T>G	XP_011511048.1:p.Leu65Arg
XM_017006277.2:c.-230T>G	XP_016861766.1:n.-230T>G
NM_000187.4:c.194T>G MANE Select	NP_000178.2:p.Leu65Arg