Canonical Allele Identifier: CA460580613

Gene: HGSNAT

Linked Data

• MyVariant Identifiers: chr8:g.43054658C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43199515C>A , CM000670.2:g.43199515C>A	GRCh38
NC_000008.10:g.43054658C>A , CM000670.1:g.43054658C>A	GRCh37
NC_000008.9:g.43173815C>A	NCBI36
NG_009552.1:g.64067C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1854C>A MANE Select	ENSP00000368965.4:p.Leu618=
ENST00000379644.8:c.1854C>A	ENSP00000368965.4:p.Leu618=
ENST00000519705.1:n.1170C>A
ENST00000521576.1:c.1005C>A	ENSP00000429029.1:p.Leu335=
NM_152419.2:c.1854C>A	NP_689632.2:p.Leu618=
XM_005273409.1:c.1965C>A	XP_005273466.1:p.Leu655=
XM_005273410.1:c.1941C>A	XP_005273467.1:p.Leu647=
XM_005273411.1:c.1773C>A	XP_005273468.1:p.Leu591=
NM_001363227.1:c.1941C>A	NP_001350156.1:p.Leu647=
NM_001363228.1:c.1662C>A	NP_001350157.1:p.Leu554=
NM_001363229.1:c.990C>A	NP_001350158.1:p.Leu330=
NM_152419.3:c.1854C>A MANE Select	NP_689632.2:p.Leu618=
NM_001363227.2:c.1941C>A	NP_001350156.1:p.Leu647=
NM_001363228.2:c.1662C>A	NP_001350157.1:p.Leu554=
NM_001363229.2:c.990C>A	NP_001350158.1:p.Leu330=