Canonical Allele Identifier: CA371119395

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43191590C>A , CM000670.2:g.43191590C>A	GRCh38
NC_000008.10:g.43046733C>A , CM000670.1:g.43046733C>A	GRCh37
NC_000008.9:g.43165890C>A	NCBI36
NG_009552.1:g.56142C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1245C>A MANE Select	NP_689632.2:p.Cys415Ter
ENST00000379644.9:c.1245C>A MANE Select	ENSP00000368965.4:p.Cys415Ter
NM_001363227.1:c.1245C>A	NP_001350156.1:p.Cys415Ter
NM_001363227.2:c.1245C>A	NP_001350156.1:p.Cys415Ter
NM_001363228.1:c.1053C>A	NP_001350157.1:p.Cys351Ter
NM_001363228.2:c.1053C>A	NP_001350157.1:p.Cys351Ter
NM_001363229.1:c.381C>A	NP_001350158.1:p.Cys127Ter
NM_001363229.2:c.381C>A	NP_001350158.1:p.Cys127Ter
NM_152419.2:c.1245C>A	NP_689632.2:p.Cys415Ter
ENST00000379644.8:c.1245C>A	ENSP00000368965.4:p.Cys415Ter
ENST00000520678.1:n.178C>A
ENST00000521576.1:c.396C>A	ENSP00000429029.1:p.Cys132Ter
ENST00000524016.5:c.349C>A
XM_005273409.1:c.1245C>A	XP_005273466.1:p.Cys415Ter
XM_005273410.1:c.1245C>A	XP_005273467.1:p.Cys415Ter
XM_005273411.1:c.1053C>A	XP_005273468.1:p.Cys351Ter
XM_005273412.2:c.1245C>A	XP_005273469.1:p.Cys415Ter
XM_005273412.4:c.1245C>A	XP_005273469.1:p.Cys415Ter