Canonical Allele Identifier: CA201256
Gene: SAG HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 194606
dbSNP Id: rs1046974

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233346901G>A , CM000664.2:g.233346901G>A GRCh38
NC_000002.11:g.234255547G>A , CM000664.1:g.234255547G>A GRCh37
NC_000002.10:g.233920286G>A NCBI36
NG_009116.1:g.44239G>A

Transcript Alleles

HGVS Amino-acid change
NM_000541.4:c.1207G>A VV NP_000532.2:p.Val403Ile
XM_011511589.1:c.1207G>A XP_011509891.1:p.Val403Ile
XM_011511590.1:c.1207G>A XP_011509892.1:p.Val403Ile
XM_011511591.1:c.*75G>A XP_011509893.1:p.=
XM_011511592.1:c.1051G>A XP_011509894.1:p.Val351Ile
XM_011511593.1:c.907G>A XP_011509895.1:p.Val303Ile
XM_011511594.1:c.835G>A XP_011509896.1:p.Val279Ile
XM_011511596.1:c.805G>A XP_011509898.1:p.Val269Ile
XM_011511597.1:c.805G>A XP_011509899.1:p.Val269Ile
XR_922978.1:n.1524G>A
XR_922980.1:n.1623G>A
XM_011511593.3:c.907G>A XP_011509895.1:p.Val303Ile
XM_017004641.1:c.*75G>A XP_016860130.1:p.=
XM_024453036.1:c.*75G>A XP_024308804.1:p.=
XR_001738882.1:n.1405G>A
XR_922980.2:n.1623G>A
NM_000541.5:c.1207G>A VV MANE Preferred NP_000532.2:p.Val403Ile
ENST00000409110.5:c.1207G>A ENSP00000386444.1:p.Val403Ile
ENST00000412969.6:n.2427G>A
ENST00000471884.5:n.3238G>A
ENST00000474220.5:n.413G>A
ENST00000476500.5:n.6506G>A
ENST00000492629.1:n.168G>A