Canonical Allele Identifier: CA354072915

Gene: HGD

Linked Data

• MyVariant Identifiers: chr3:g.120352121T>A (hg19) ; chr3:g.120633274T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120633274T>A , CM000665.2:g.120633274T>A	GRCh38
NC_000003.11:g.120352121T>A , CM000665.1:g.120352121T>A	GRCh37
NC_000003.10:g.121834811T>A	NCBI36
NG_011957.1:g.54208A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000283871.10:c.1061A>T MANE Select	ENSP00000283871.5:p.Gln354Leu
ENST00000283871.9:c.1061A>T	ENSP00000283871.5:p.Gln354Leu
ENST00000470321.1:n.401A>T
ENST00000492108.5:c.340A>T	ENSP00000419838.1:n.340A>T
NM_000187.3:c.1061A>T	NP_000178.2:p.Gln354Leu
XM_005247412.1:c.836A>T	XP_005247469.1:p.Gln279Leu
XM_005247412.2:c.836A>T	XP_005247469.1:p.Gln279Leu
XM_017006277.2:c.638A>T	XP_016861766.1:p.Gln213Leu
NM_000187.4:c.1061A>T MANE Select	NP_000178.2:p.Gln354Leu