Canonical Allele Identifier: CA2174177

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233309220G>A , CM000664.2:g.233309220G>A	GRCh38
NC_000002.11:g.234217866G>A , CM000664.1:g.234217866G>A	GRCh37
NC_000002.10:g.233882605G>A	NCBI36
NG_009116.1:g.6558G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000541.5:c.31G>A MANE Select	NP_000532.2:p.Glu11Lys
ENST00000409110.6:c.31G>A MANE Select	ENSP00000386444.1:p.Glu11Lys
NM_000541.4:c.31G>A	NP_000532.2:p.Glu11Lys
ENST00000409110.5:c.31G>A	ENSP00000386444.1:p.Glu11Lys
ENST00000412969.6:n.150G>A
ENST00000415974.1:c.31G>A	ENSP00000409475.1:p.Glu11Lys
ENST00000447536.5:c.31G>A	ENSP00000408937.1:p.Glu11Lys
ENST00000453143.5:c.31G>A	ENSP00000404733.1:p.Glu11Lys
ENST00000462487.5:n.144+1198G>A
ENST00000471884.5:n.202G>A
ENST00000476500.5:n.266G>A
ENST00000479450.1:n.139+1198G>A
XM_011511589.1:c.31G>A	XP_011509891.1:p.Glu11Lys
XM_011511590.1:c.31G>A	XP_011509892.1:p.Glu11Lys
XM_011511591.1:c.31G>A	XP_011509893.1:p.Glu11Lys
XM_011511595.1:c.31G>A	XP_011509897.1:p.Glu11Lys
XM_011511597.1:c.-178G>A	XP_011509899.1:n.-178G>A
XM_017004641.1:c.31G>A	XP_016860130.1:p.Glu11Lys
XM_017004642.1:c.31G>A	XP_016860131.1:p.Glu11Lys
XM_017004643.1:c.31G>A	XP_016860132.1:p.Glu11Lys
XR_001738882.1:n.108G>A
XR_922978.1:n.227G>A
XR_922979.1:n.227G>A