Canonical Allele Identifier: CA460580549

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43199398-C-A
• MyVariant Identifiers: chr8:g.43054541C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199398C>A , CM000670.2:g.43199398C>A	GRCh38
NC_000008.10:g.43054541C>A , CM000670.1:g.43054541C>A	GRCh37
NC_000008.9:g.43173698C>A	NCBI36
NG_009552.1:g.63950C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1737C>A MANE Select	ENSP00000368965.4:p.Ser579=
ENST00000379644.8:c.1737C>A	ENSP00000368965.4:p.Ser579=
ENST00000519705.1:n.1053C>A
ENST00000521576.1:c.888C>A	ENSP00000429029.1:p.Ser296=
NM_152419.2:c.1737C>A	NP_689632.2:p.Ser579=
XM_005273409.1:c.1848C>A	XP_005273466.1:p.Ser616=
XM_005273410.1:c.1824C>A	XP_005273467.1:p.Ser608=
XM_005273411.1:c.1656C>A	XP_005273468.1:p.Ser552=
NM_001363227.1:c.1824C>A	NP_001350156.1:p.Ser608=
NM_001363228.1:c.1545C>A	NP_001350157.1:p.Ser515=
NM_001363229.1:c.873C>A	NP_001350158.1:p.Ser291=
NM_152419.3:c.1737C>A MANE Select	NP_689632.2:p.Ser579=
NM_001363227.2:c.1824C>A	NP_001350156.1:p.Ser608=
NM_001363228.2:c.1545C>A	NP_001350157.1:p.Ser515=
NM_001363229.2:c.873C>A	NP_001350158.1:p.Ser291=