Canonical Allele Identifier: CA371119985

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43048984C>A (hg19) ; chr8:g.43193841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43193841C>A , CM000670.2:g.43193841C>A	GRCh38
NC_000008.10:g.43048984C>A , CM000670.1:g.43048984C>A	GRCh37
NC_000008.9:g.43168141C>A	NCBI36
NG_009552.1:g.58393C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1462C>A MANE Select	ENSP00000368965.4:p.Gln488Lys
ENST00000379644.8:c.1462C>A	ENSP00000368965.4:p.Gln488Lys
ENST00000520678.1:n.395C>A
ENST00000521576.1:c.613C>A	ENSP00000429029.1:p.Gln205Lys
ENST00000524016.5:c.566C>A
NM_152419.2:c.1462C>A	NP_689632.2:p.Gln488Lys
XM_005273409.1:c.1462C>A	XP_005273466.1:p.Gln488Lys
XM_005273410.1:c.1462C>A	XP_005273467.1:p.Gln488Lys
XM_005273411.1:c.1270C>A	XP_005273468.1:p.Gln424Lys
XM_005273412.2:c.1462C>A	XP_005273469.1:p.Gln488Lys
NM_001363227.1:c.1462C>A	NP_001350156.1:p.Gln488Lys
NM_001363228.1:c.1270C>A	NP_001350157.1:p.Gln424Lys
NM_001363229.1:c.598C>A	NP_001350158.1:p.Gln200Lys
XM_005273412.4:c.1462C>A	XP_005273469.1:p.Gln488Lys
NM_152419.3:c.1462C>A MANE Select	NP_689632.2:p.Gln488Lys
NM_001363227.2:c.1462C>A	NP_001350156.1:p.Gln488Lys
NM_001363228.2:c.1270C>A	NP_001350157.1:p.Gln424Lys
NM_001363229.2:c.598C>A	NP_001350158.1:p.Gln200Lys