Canonical Allele Identifier: CA1779777524

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199504G= , CM000670.2:g.43199504G=	GRCh38
NC_000008.10:g.43054647G= , CM000670.1:g.43054647G=	GRCh37
NC_000008.9:g.43173804G=	NCBI36
NG_009552.1:g.64056G=

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1843G= MANE Select	NP_689632.2:p.Ala615=
ENST00000379644.9:c.1843G= MANE Select	ENSP00000368965.4:p.Ala615=
NM_001363227.1:c.1930G=	NP_001350156.1:p.Ala644=
NM_001363227.2:c.1930G=	NP_001350156.1:p.Ala644=
NM_001363228.1:c.1651G=	NP_001350157.1:p.Ala551=
NM_001363228.2:c.1651G=	NP_001350157.1:p.Ala551=
NM_001363229.1:c.979G=	NP_001350158.1:p.Ala327=
NM_001363229.2:c.979G=	NP_001350158.1:p.Ala327=
NM_152419.2:c.1843G=	NP_689632.2:p.Ala615=
ENST00000379644.8:c.1843G=	ENSP00000368965.4:p.Ala615=
ENST00000519705.1:n.1159G=
ENST00000521576.1:c.994G=	ENSP00000429029.1:p.Ala332=
XM_005273409.1:c.1954G=	XP_005273466.1:p.Ala652=
XM_005273410.1:c.1930G=	XP_005273467.1:p.Ala644=
XM_005273411.1:c.1762G=	XP_005273468.1:p.Ala588=