Canonical Allele Identifier: CA240671

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346826G>A , CM000664.2:g.233346826G>A	GRCh38
NC_000002.11:g.234255472G>A , CM000664.1:g.234255472G>A	GRCh37
NC_000002.10:g.233920211G>A	NCBI36
NG_009116.1:g.44164G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000541.5:c.1132G>A MANE Select	NP_000532.2:p.Val378Ile
ENST00000409110.6:c.1132G>A MANE Select	ENSP00000386444.1:p.Val378Ile
NM_000541.4:c.1132G>A	NP_000532.2:p.Val378Ile
ENST00000409110.5:c.1132G>A	ENSP00000386444.1:p.Val378Ile
ENST00000412969.6:n.2352G>A
ENST00000471884.5:n.3163G>A
ENST00000474220.5:n.338G>A
ENST00000476500.5:n.6431G>A
ENST00000492629.1:n.93G>A
XM_011511589.1:c.1132G>A	XP_011509891.1:p.Val378Ile
XM_011511590.1:c.1132G>A	XP_011509892.1:p.Val378Ile
XM_011511591.1:c.1122G>A	XP_011509893.1:p.Ter374=
XM_011511592.1:c.976G>A	XP_011509894.1:p.Val326Ile
XM_011511593.1:c.832G>A	XP_011509895.1:p.Val278Ile
XM_011511593.3:c.832G>A	XP_011509895.1:p.Val278Ile
XM_011511594.1:c.760G>A	XP_011509896.1:p.Val254Ile
XM_011511596.1:c.730G>A	XP_011509898.1:p.Val244Ile
XM_011511597.1:c.730G>A	XP_011509899.1:p.Val244Ile
XM_017004641.1:c.1122G>A	XP_016860130.1:p.Ter374=
XM_024453036.1:c.720G>A	XP_024308804.1:p.Ter240=
XR_001738882.1:n.1330G>A
XR_922978.1:n.1449G>A
XR_922979.1:n.1453G>A
XR_922980.1:n.1548G>A
XR_922980.2:n.1548G>A