Canonical Allele Identifier: CA371116912

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43033237C>G (hg19) ; chr8:g.43178094C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43178094C>G , CM000670.2:g.43178094C>G	GRCh38
NC_000008.10:g.43033237C>G , CM000670.1:g.43033237C>G	GRCh37
NC_000008.9:g.43152394C>G	NCBI36
NG_009552.1:g.42646C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.872C>G MANE Select	ENSP00000368965.4:p.Ser291Cys
ENST00000379644.8:c.872C>G	ENSP00000368965.4:p.Ser291Cys
ENST00000522082.5:c.113C>G	ENSP00000430151.1:p.Ser38Cys
NM_152419.2:c.872C>G	NP_689632.2:p.Ser291Cys
XM_005273409.1:c.872C>G	XP_005273466.1:p.Ser291Cys
XM_005273410.1:c.872C>G	XP_005273467.1:p.Ser291Cys
XM_005273411.1:c.821-4051C>G	XP_005273468.1:n.821-4051C>G
XM_005273412.2:c.872C>G	XP_005273469.1:p.Ser291Cys
NM_001363227.1:c.872C>G	NP_001350156.1:p.Ser291Cys
NM_001363228.1:c.821-4051C>G	NP_001350157.1:n.821-4051C>G
NM_001363229.1:c.8C>G	NP_001350158.1:p.Ser3Cys
XM_005273412.4:c.872C>G	XP_005273469.1:p.Ser291Cys
NM_152419.3:c.872C>G MANE Select	NP_689632.2:p.Ser291Cys
NM_001363227.2:c.872C>G	NP_001350156.1:p.Ser291Cys
NM_001363228.2:c.821-4051C>G	NP_001350157.1:n.821-4051C>G
NM_001363229.2:c.8C>G	NP_001350158.1:p.Ser3Cys