Canonical Allele Identifier: CA371121306

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054590C>G (hg19) ; chr8:g.43199447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199447C>G , CM000670.2:g.43199447C>G	GRCh38
NC_000008.10:g.43054590C>G , CM000670.1:g.43054590C>G	GRCh37
NC_000008.9:g.43173747C>G	NCBI36
NG_009552.1:g.63999C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1786C>G MANE Select	ENSP00000368965.4:p.Gln596Glu
ENST00000379644.8:c.1786C>G	ENSP00000368965.4:p.Gln596Glu
ENST00000519705.1:n.1102C>G
ENST00000521576.1:c.937C>G	ENSP00000429029.1:p.Gln313Glu
NM_152419.2:c.1786C>G	NP_689632.2:p.Gln596Glu
XM_005273409.1:c.1897C>G	XP_005273466.1:p.Gln633Glu
XM_005273410.1:c.1873C>G	XP_005273467.1:p.Gln625Glu
XM_005273411.1:c.1705C>G	XP_005273468.1:p.Gln569Glu
NM_001363227.1:c.1873C>G	NP_001350156.1:p.Gln625Glu
NM_001363228.1:c.1594C>G	NP_001350157.1:p.Gln532Glu
NM_001363229.1:c.922C>G	NP_001350158.1:p.Gln308Glu
NM_152419.3:c.1786C>G MANE Select	NP_689632.2:p.Gln596Glu
NM_001363227.2:c.1873C>G	NP_001350156.1:p.Gln625Glu
NM_001363228.2:c.1594C>G	NP_001350157.1:p.Gln532Glu
NM_001363229.2:c.922C>G	NP_001350158.1:p.Gln308Glu