Canonical Allele Identifier: CA340347563

Gene: SHISAL2A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.52642914C>A , CM000663.2:g.52642914C>A	GRCh38
NC_000001.10:g.53108586C>A , CM000663.1:g.53108586C>A	GRCh37
NC_000001.9:g.52881174C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001042693.3:c.234C>A MANE Select	NP_001036158.1:p.Phe78Leu
ENST00000517870.2:c.234C>A MANE Select	ENSP00000429726.1:p.Phe78Leu
NM_001042693.1:c.234C>A	NP_001036158.1:p.Phe78Leu
NM_001042693.2:c.234C>A	NP_001036158.1:p.Phe78Leu
NR_135156.1:n.477C>A
NR_135156.2:n.653C>A
NR_135157.1:n.384C>A
NR_135157.2:n.560C>A
ENST00000401050.7:n.427C>A
ENST00000424164.1:n.135C>A
ENST00000440303.5:n.384C>A
ENST00000517870.1:c.234C>A	ENSP00000429726.1:p.Phe78Leu
XM_011541377.1:c.246C>A	XP_011539679.1:p.Phe82Leu
XM_011541377.2:c.246C>A	XP_011539679.1:p.Phe82Leu
XM_011541378.1:c.246C>A	XP_011539680.1:p.Phe82Leu
XM_011541378.2:c.246C>A	XP_011539680.1:p.Phe82Leu
XR_946635.1:n.1653C>A
XR_946635.2:n.1654C>A
XR_946636.1:n.1653C>A
XR_946636.2:n.1654C>A
XR_946637.1:n.384C>A
XR_946638.1:n.384C>A
XR_946639.1:n.420C>A
XR_946639.2:n.642C>A