Canonical Allele Identifier: CA1779759980

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192407C= , CM000670.2:g.43192407C=	GRCh38
NC_000008.10:g.43047550C= , CM000670.1:g.43047550C=	GRCh37
NC_000008.9:g.43166707C=	NCBI36
NG_009552.1:g.56959C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1354C= MANE Select	ENSP00000368965.4:p.Leu452=
ENST00000379644.8:c.1354C=	ENSP00000368965.4:p.Leu452=
ENST00000520678.1:n.287C=
ENST00000521576.1:c.505C=	ENSP00000429029.1:p.Leu169=
ENST00000524016.5:c.458C=
NM_152419.2:c.1354C=	NP_689632.2:p.Leu452=
XM_005273409.1:c.1354C=	XP_005273466.1:p.Leu452=
XM_005273410.1:c.1354C=	XP_005273467.1:p.Leu452=
XM_005273411.1:c.1162C=	XP_005273468.1:p.Leu388=
XM_005273412.2:c.1354C=	XP_005273469.1:p.Leu452=
NM_001363227.1:c.1354C=	NP_001350156.1:p.Leu452=
NM_001363228.1:c.1162C=	NP_001350157.1:p.Leu388=
NM_001363229.1:c.490C=	NP_001350158.1:p.Leu164=
XM_005273412.4:c.1354C=	XP_005273469.1:p.Leu452=
NM_152419.3:c.1354C= MANE Select	NP_689632.2:p.Leu452=
NM_001363227.2:c.1354C=	NP_001350156.1:p.Leu452=
NM_001363228.2:c.1162C=	NP_001350157.1:p.Leu388=
NM_001363229.2:c.490C=	NP_001350158.1:p.Leu164=