Canonical Allele Identifier: CA460580551

Gene: HGSNAT

Linked Data

• COSMIC: COSM5697311 ; COSM5697312
• MyVariant Identifiers: chr8:g.43054541C>T (hg19)

Genomic Alleles

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

Transcript Alleles

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