Canonical Allele Identifier: CA4736679

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43178109C>T , CM000670.2:g.43178109C>T	GRCh38
NC_000008.10:g.43033252C>T , CM000670.1:g.43033252C>T	GRCh37
NC_000008.9:g.43152409C>T	NCBI36
NG_009552.1:g.42661C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.887C>T MANE Select	NP_689632.2:p.Ser296Leu
ENST00000379644.9:c.887C>T MANE Select	ENSP00000368965.4:p.Ser296Leu
NM_001363227.1:c.887C>T	NP_001350156.1:p.Ser296Leu
NM_001363227.2:c.887C>T	NP_001350156.1:p.Ser296Leu
NM_001363228.1:c.821-4036C>T	NP_001350157.1:n.821-4036C>T
NM_001363228.2:c.821-4036C>T	NP_001350157.1:n.821-4036C>T
NM_001363229.1:c.23C>T	NP_001350158.1:p.Ser8Leu
NM_001363229.2:c.23C>T	NP_001350158.1:p.Ser8Leu
NM_152419.2:c.887C>T	NP_689632.2:p.Ser296Leu
ENST00000379644.8:c.887C>T	ENSP00000368965.4:p.Ser296Leu
ENST00000522082.5:c.128C>T	ENSP00000430151.1:p.Ser43Leu
XM_005273409.1:c.887C>T	XP_005273466.1:p.Ser296Leu
XM_005273410.1:c.887C>T	XP_005273467.1:p.Ser296Leu
XM_005273411.1:c.821-4036C>T	XP_005273468.1:n.821-4036C>T
XM_005273412.2:c.887C>T	XP_005273469.1:p.Ser296Leu
XM_005273412.4:c.887C>T	XP_005273469.1:p.Ser296Leu