Canonical Allele Identifier: CA371121313

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054591A>T (hg19) ; chr8:g.43199448A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199448A>T , CM000670.2:g.43199448A>T	GRCh38
NC_000008.10:g.43054591A>T , CM000670.1:g.43054591A>T	GRCh37
NC_000008.9:g.43173748A>T	NCBI36
NG_009552.1:g.64000A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1787A>T MANE Select	ENSP00000368965.4:p.Gln596Leu
ENST00000379644.8:c.1787A>T	ENSP00000368965.4:p.Gln596Leu
ENST00000519705.1:n.1103A>T
ENST00000521576.1:c.938A>T	ENSP00000429029.1:p.Gln313Leu
NM_152419.2:c.1787A>T	NP_689632.2:p.Gln596Leu
XM_005273409.1:c.1898A>T	XP_005273466.1:p.Gln633Leu
XM_005273410.1:c.1874A>T	XP_005273467.1:p.Gln625Leu
XM_005273411.1:c.1706A>T	XP_005273468.1:p.Gln569Leu
NM_001363227.1:c.1874A>T	NP_001350156.1:p.Gln625Leu
NM_001363228.1:c.1595A>T	NP_001350157.1:p.Gln532Leu
NM_001363229.1:c.923A>T	NP_001350158.1:p.Gln308Leu
NM_152419.3:c.1787A>T MANE Select	NP_689632.2:p.Gln596Leu
NM_001363227.2:c.1874A>T	NP_001350156.1:p.Gln625Leu
NM_001363228.2:c.1595A>T	NP_001350157.1:p.Gln532Leu
NM_001363229.2:c.923A>T	NP_001350158.1:p.Gln308Leu