Canonical Allele Identifier: CA371120871

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197953G>A , CM000670.2:g.43197953G>A	GRCh38
NC_000008.10:g.43053096G>A , CM000670.1:g.43053096G>A	GRCh37
NC_000008.9:g.43172253G>A	NCBI36
NG_009552.1:g.62505G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1726+1G>A MANE Select	NP_689632.2:n.1726+1G>A
ENST00000379644.9:c.1726+1G>A MANE Select	ENSP00000368965.4:n.1726+1G>A
NM_001363227.1:c.1813+1G>A	NP_001350156.1:n.1813+1G>A
NM_001363227.2:c.1813+1G>A	NP_001350156.1:n.1813+1G>A
NM_001363228.1:c.1534+1G>A	NP_001350157.1:n.1534+1G>A
NM_001363228.2:c.1534+1G>A	NP_001350157.1:n.1534+1G>A
NM_001363229.1:c.862+1G>A	NP_001350158.1:n.862+1G>A
NM_001363229.2:c.862+1G>A	NP_001350158.1:n.862+1G>A
NM_152419.2:c.1726+1G>A	NP_689632.2:n.1726+1G>A
ENST00000379644.8:c.1726+1G>A	ENSP00000368965.4:n.1726+1G>A
ENST00000519705.1:n.1042+1G>A
ENST00000521576.1:c.877+1G>A	ENSP00000429029.1:n.877+1G>A
XM_005273409.1:c.1837+1G>A	XP_005273466.1:n.1837+1G>A
XM_005273410.1:c.1813+1G>A	XP_005273467.1:n.1813+1G>A
XM_005273411.1:c.1645+1G>A	XP_005273468.1:n.1645+1G>A