Canonical Allele Identifier: CA371116512

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43028874T>G (hg19) ; chr8:g.43173731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173731T>G , CM000670.2:g.43173731T>G	GRCh38
NC_000008.10:g.43028874T>G , CM000670.1:g.43028874T>G	GRCh37
NC_000008.9:g.43148031T>G	NCBI36
NG_009552.1:g.38283T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.839T>G MANE Select	ENSP00000368965.4:p.Leu280Arg
ENST00000379644.8:c.839T>G	ENSP00000368965.4:p.Leu280Arg
ENST00000520704.1:c.*288T>G	ENSP00000429109.1:n.*288T>G
ENST00000522082.5:c.80T>G	ENSP00000430151.1:p.Leu27Arg
NM_152419.2:c.839T>G	NP_689632.2:p.Leu280Arg
XM_005273409.1:c.839T>G	XP_005273466.1:p.Leu280Arg
XM_005273410.1:c.839T>G	XP_005273467.1:p.Leu280Arg
XM_005273411.1:c.820+1345T>G	XP_005273468.1:n.820+1345T>G
XM_005273412.2:c.839T>G	XP_005273469.1:p.Leu280Arg
NM_001363227.1:c.839T>G	NP_001350156.1:p.Leu280Arg
NM_001363228.1:c.820+1345T>G	NP_001350157.1:n.820+1345T>G
NM_001363229.1:c.-14+1345T>G	NP_001350158.1:n.-14+1345T>G
XM_005273412.4:c.839T>G	XP_005273469.1:p.Leu280Arg
NM_152419.3:c.839T>G MANE Select	NP_689632.2:p.Leu280Arg
NM_001363227.2:c.839T>G	NP_001350156.1:p.Leu280Arg
NM_001363228.2:c.820+1345T>G	NP_001350157.1:n.820+1345T>G
NM_001363229.2:c.-14+1345T>G	NP_001350158.1:n.-14+1345T>G