Canonical Allele Identifier: CA351046858

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233323006G>A , CM000664.2:g.233323006G>A	GRCh38
NC_000002.11:g.234231652G>A , CM000664.1:g.234231652G>A	GRCh37
NC_000002.10:g.233896391G>A	NCBI36
NG_009116.1:g.20344G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000541.5:c.435+1G>A MANE Select	NP_000532.2:n.435+1G>A
ENST00000409110.6:c.435+1G>A MANE Select	ENSP00000386444.1:n.435+1G>A
NM_000541.4:c.435+1G>A	NP_000532.2:n.435+1G>A
ENST00000409110.5:c.435+1G>A	ENSP00000386444.1:n.435+1G>A
ENST00000412969.6:n.375+1G>A
ENST00000447536.5:c.435+1G>A	ENSP00000408937.1:n.435+1G>A
ENST00000453143.5:c.*266+1G>A	ENSP00000404733.1:n.*266+1G>A
ENST00000471884.5:n.606+1G>A
ENST00000474206.1:n.272+1G>A
ENST00000476500.5:n.476+1G>A
XM_011511589.1:c.435+1G>A	XP_011509891.1:n.435+1G>A
XM_011511590.1:c.435+1G>A	XP_011509892.1:n.435+1G>A
XM_011511591.1:c.435+1G>A	XP_011509893.1:n.435+1G>A
XM_011511592.1:c.279+1G>A	XP_011509894.1:n.279+1G>A
XM_011511593.1:c.135+1G>A	XP_011509895.1:n.135+1G>A
XM_011511593.3:c.135+1G>A	XP_011509895.1:n.135+1G>A
XM_011511594.1:c.63+1G>A	XP_011509896.1:n.63+1G>A
XM_011511595.1:c.435+1G>A	XP_011509897.1:n.435+1G>A
XM_011511596.1:c.33+1G>A	XP_011509898.1:n.33+1G>A
XM_011511597.1:c.33+1G>A	XP_011509899.1:n.33+1G>A
XM_017004641.1:c.435+1G>A	XP_016860130.1:n.435+1G>A
XM_017004642.1:c.435+1G>A	XP_016860131.1:n.435+1G>A
XM_017004643.1:c.435+1G>A	XP_016860132.1:n.435+1G>A
XM_024453036.1:c.33+1G>A	XP_024308804.1:n.33+1G>A
XR_001738882.1:n.512+1G>A
XR_922978.1:n.631+1G>A
XR_922979.1:n.631+1G>A
XR_922980.1:n.730+1G>A
XR_922980.2:n.730+1G>A