Canonical Allele Identifier: CA371118334

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43037305C>A (hg19) ; chr8:g.43182162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182162C>A , CM000670.2:g.43182162C>A	GRCh38
NC_000008.10:g.43037305C>A , CM000670.1:g.43037305C>A	GRCh37
NC_000008.9:g.43156462C>A	NCBI36
NG_009552.1:g.46714C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1030C>A MANE Select	ENSP00000368965.4:p.Arg344Ser
ENST00000379644.8:c.1030C>A	ENSP00000368965.4:p.Arg344Ser
ENST00000519000.1:n.516C>A
ENST00000521576.1:c.181C>A	ENSP00000429029.1:p.Arg61Ser
ENST00000522082.5:c.271C>A	ENSP00000430151.1:p.Arg91Ser
ENST00000524016.5:c.134C>A
NM_152419.2:c.1030C>A	NP_689632.2:p.Arg344Ser
XM_005273409.1:c.1030C>A	XP_005273466.1:p.Arg344Ser
XM_005273410.1:c.1030C>A	XP_005273467.1:p.Arg344Ser
XM_005273411.1:c.838C>A	XP_005273468.1:p.Arg280Ser
XM_005273412.2:c.1030C>A	XP_005273469.1:p.Arg344Ser
NM_001363227.1:c.1030C>A	NP_001350156.1:p.Arg344Ser
NM_001363228.1:c.838C>A	NP_001350157.1:p.Arg280Ser
NM_001363229.1:c.166C>A	NP_001350158.1:p.Arg56Ser
XM_005273412.4:c.1030C>A	XP_005273469.1:p.Arg344Ser
NM_152419.3:c.1030C>A MANE Select	NP_689632.2:p.Arg344Ser
NM_001363227.2:c.1030C>A	NP_001350156.1:p.Arg344Ser
NM_001363228.2:c.838C>A	NP_001350157.1:p.Arg280Ser
NM_001363229.2:c.166C>A	NP_001350158.1:p.Arg56Ser