Canonical Allele Identifier: CA2174325

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233320746G>A , CM000664.2:g.233320746G>A	GRCh38
NC_000002.11:g.234229392G>A , CM000664.1:g.234229392G>A	GRCh37
NC_000002.10:g.233894131G>A	NCBI36
NG_009116.1:g.18084G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000541.5:c.298G>A MANE Select	NP_000532.2:p.Ala100Thr
ENST00000409110.6:c.298G>A MANE Select	ENSP00000386444.1:p.Ala100Thr
NM_000541.4:c.298G>A	NP_000532.2:p.Ala100Thr
ENST00000409110.5:c.298G>A	ENSP00000386444.1:p.Ala100Thr
ENST00000412969.6:n.315+1951G>A
ENST00000447536.5:c.298G>A	ENSP00000408937.1:p.Ala100Thr
ENST00000453143.5:c.*129G>A	ENSP00000404733.1:n.*129G>A
ENST00000462487.5:n.367G>A
ENST00000471884.5:n.469G>A
ENST00000474206.1:n.135G>A
ENST00000476500.5:n.416+1951G>A
ENST00000479450.1:n.140-2200G>A
XM_011511589.1:c.298G>A	XP_011509891.1:p.Ala100Thr
XM_011511590.1:c.298G>A	XP_011509892.1:p.Ala100Thr
XM_011511591.1:c.298G>A	XP_011509893.1:p.Ala100Thr
XM_011511592.1:c.142G>A	XP_011509894.1:p.Ala48Thr
XM_011511593.1:c.75+723G>A	XP_011509895.1:n.75+723G>A
XM_011511593.3:c.75+723G>A	XP_011509895.1:n.75+723G>A
XM_011511595.1:c.298G>A	XP_011509897.1:p.Ala100Thr
XM_011511596.1:c.-105G>A	XP_011509898.1:n.-105G>A
XM_011511597.1:c.-28+1951G>A	XP_011509899.1:n.-28+1951G>A
XM_017004641.1:c.298G>A	XP_016860130.1:p.Ala100Thr
XM_017004642.1:c.298G>A	XP_016860131.1:p.Ala100Thr
XM_017004643.1:c.298G>A	XP_016860132.1:p.Ala100Thr
XM_024453036.1:c.-105G>A	XP_024308804.1:n.-105G>A
XR_001738882.1:n.375G>A
XR_922978.1:n.494G>A
XR_922979.1:n.494G>A
XR_922980.1:n.593G>A
XR_922980.2:n.593G>A