Canonical Allele Identifier: CA371121131

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054558G>T (hg19) ; chr8:g.43199415G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199415G>T , CM000670.2:g.43199415G>T	GRCh38
NC_000008.10:g.43054558G>T , CM000670.1:g.43054558G>T	GRCh37
NC_000008.9:g.43173715G>T	NCBI36
NG_009552.1:g.63967G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1754G>T MANE Select	ENSP00000368965.4:p.Gly585Val
ENST00000379644.8:c.1754G>T	ENSP00000368965.4:p.Gly585Val
ENST00000519705.1:n.1070G>T
ENST00000521576.1:c.905G>T	ENSP00000429029.1:p.Gly302Val
NM_152419.2:c.1754G>T	NP_689632.2:p.Gly585Val
XM_005273409.1:c.1865G>T	XP_005273466.1:p.Gly622Val
XM_005273410.1:c.1841G>T	XP_005273467.1:p.Gly614Val
XM_005273411.1:c.1673G>T	XP_005273468.1:p.Gly558Val
NM_001363227.1:c.1841G>T	NP_001350156.1:p.Gly614Val
NM_001363228.1:c.1562G>T	NP_001350157.1:p.Gly521Val
NM_001363229.1:c.890G>T	NP_001350158.1:p.Gly297Val
NM_152419.3:c.1754G>T MANE Select	NP_689632.2:p.Gly585Val
NM_001363227.2:c.1841G>T	NP_001350156.1:p.Gly614Val
NM_001363228.2:c.1562G>T	NP_001350157.1:p.Gly521Val
NM_001363229.2:c.890G>T	NP_001350158.1:p.Gly297Val