Canonical Allele Identifier: CA371119701

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192383C>T , CM000670.2:g.43192383C>T	GRCh38
NC_000008.10:g.43047526C>T , CM000670.1:g.43047526C>T	GRCh37
NC_000008.9:g.43166683C>T	NCBI36
NG_009552.1:g.56935C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1330C>T MANE Select	NP_689632.2:p.Arg444Cys
ENST00000379644.9:c.1330C>T MANE Select	ENSP00000368965.4:p.Arg444Cys
NM_001363227.1:c.1330C>T	NP_001350156.1:p.Arg444Cys
NM_001363227.2:c.1330C>T	NP_001350156.1:p.Arg444Cys
NM_001363228.1:c.1138C>T	NP_001350157.1:p.Arg380Cys
NM_001363228.2:c.1138C>T	NP_001350157.1:p.Arg380Cys
NM_001363229.1:c.466C>T	NP_001350158.1:p.Arg156Cys
NM_001363229.2:c.466C>T	NP_001350158.1:p.Arg156Cys
NM_152419.2:c.1330C>T	NP_689632.2:p.Arg444Cys
ENST00000379644.8:c.1330C>T	ENSP00000368965.4:p.Arg444Cys
ENST00000520678.1:n.263C>T
ENST00000521576.1:c.481C>T	ENSP00000429029.1:p.Arg161Cys
ENST00000524016.5:c.434C>T
XM_005273409.1:c.1330C>T	XP_005273466.1:p.Arg444Cys
XM_005273410.1:c.1330C>T	XP_005273467.1:p.Arg444Cys
XM_005273411.1:c.1138C>T	XP_005273468.1:p.Arg380Cys
XM_005273412.2:c.1330C>T	XP_005273469.1:p.Arg444Cys
XM_005273412.4:c.1330C>T	XP_005273469.1:p.Arg444Cys