Canonical Allele Identifier: CA4736626

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43172339A>G , CM000670.2:g.43172339A>G	GRCh38
NC_000008.10:g.43027482A>G , CM000670.1:g.43027482A>G	GRCh37
NC_000008.9:g.43146639A>G	NCBI36
NG_009552.1:g.36891A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.773A>G MANE Select	NP_689632.2:p.Asn258Ser
ENST00000379644.9:c.773A>G MANE Select	ENSP00000368965.4:p.Asn258Ser
NM_001363227.1:c.773A>G	NP_001350156.1:p.Asn258Ser
NM_001363227.2:c.773A>G	NP_001350156.1:p.Asn258Ser
NM_001363228.1:c.773A>G	NP_001350157.1:p.Asn258Ser
NM_001363228.2:c.773A>G	NP_001350157.1:p.Asn258Ser
NM_001363229.1:c.-61A>G	NP_001350158.1:n.-61A>G
NM_001363229.2:c.-61A>G	NP_001350158.1:n.-61A>G
NM_152419.2:c.773A>G	NP_689632.2:p.Asn258Ser
ENST00000379644.8:c.773A>G	ENSP00000368965.4:p.Asn258Ser
ENST00000520704.1:c.*222A>G	ENSP00000429109.1:n.*222A>G
ENST00000522082.5:c.14A>G	ENSP00000430151.1:p.Asn5Ser
XM_005273409.1:c.773A>G	XP_005273466.1:p.Asn258Ser
XM_005273410.1:c.773A>G	XP_005273467.1:p.Asn258Ser
XM_005273411.1:c.773A>G	XP_005273468.1:p.Asn258Ser
XM_005273412.2:c.773A>G	XP_005273469.1:p.Asn258Ser
XM_005273412.4:c.773A>G	XP_005273469.1:p.Asn258Ser