Canonical Allele Identifier: CA371118352

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43037314G>C (hg19) ; chr8:g.43182171G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182171G>C , CM000670.2:g.43182171G>C	GRCh38
NC_000008.10:g.43037314G>C , CM000670.1:g.43037314G>C	GRCh37
NC_000008.9:g.43156471G>C	NCBI36
NG_009552.1:g.46723G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1039G>C MANE Select	ENSP00000368965.4:p.Gly347Arg
ENST00000379644.8:c.1039G>C	ENSP00000368965.4:p.Gly347Arg
ENST00000519000.1:n.525G>C
ENST00000521576.1:c.190G>C	ENSP00000429029.1:p.Gly64Arg
ENST00000522082.5:c.280G>C	ENSP00000430151.1:p.Gly94Arg
ENST00000524016.5:c.143G>C
NM_152419.2:c.1039G>C	NP_689632.2:p.Gly347Arg
XM_005273409.1:c.1039G>C	XP_005273466.1:p.Gly347Arg
XM_005273410.1:c.1039G>C	XP_005273467.1:p.Gly347Arg
XM_005273411.1:c.847G>C	XP_005273468.1:p.Gly283Arg
XM_005273412.2:c.1039G>C	XP_005273469.1:p.Gly347Arg
NM_001363227.1:c.1039G>C	NP_001350156.1:p.Gly347Arg
NM_001363228.1:c.847G>C	NP_001350157.1:p.Gly283Arg
NM_001363229.1:c.175G>C	NP_001350158.1:p.Gly59Arg
XM_005273412.4:c.1039G>C	XP_005273469.1:p.Gly347Arg
NM_152419.3:c.1039G>C MANE Select	NP_689632.2:p.Gly347Arg
NM_001363227.2:c.1039G>C	NP_001350156.1:p.Gly347Arg
NM_001363228.2:c.847G>C	NP_001350157.1:p.Gly283Arg
NM_001363229.2:c.175G>C	NP_001350158.1:p.Gly59Arg