Canonical Allele Identifier: CA67531255

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233307982G>A , CM000664.2:g.233307982G>A	GRCh38
NC_000002.11:g.234216628G>A , CM000664.1:g.234216628G>A	GRCh37
NC_000002.10:g.233881367G>A	NCBI36
NG_009116.1:g.5320G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000541.5:c.-69G>A MANE Select	NP_000532.2:n.-69G>A
ENST00000409110.6:c.-69G>A MANE Select	ENSP00000386444.1:n.-69G>A
NM_000541.4:c.-69G>A	NP_000532.2:n.-69G>A
ENST00000409110.5:c.-69G>A	ENSP00000386444.1:n.-69G>A
ENST00000412969.6:n.51G>A
ENST00000415974.1:c.-69G>A	ENSP00000409475.1:n.-69G>A
ENST00000447536.5:c.-118G>A	ENSP00000408937.1:n.-118G>A
ENST00000453143.5:c.-118G>A	ENSP00000404733.1:n.-118G>A
ENST00000462487.5:n.104G>A
ENST00000471884.5:n.103G>A
ENST00000476500.5:n.167G>A
ENST00000479450.1:n.99G>A
XM_011511589.1:c.-77-1131G>A	XP_011509891.1:n.-77-1131G>A
XM_011511590.1:c.-28-1180G>A	XP_011509892.1:n.-28-1180G>A
XM_011511591.1:c.-77-1131G>A	XP_011509893.1:n.-77-1131G>A
XM_011511595.1:c.-77-1131G>A	XP_011509897.1:n.-77-1131G>A
XM_011511597.1:c.-285-1131G>A	XP_011509899.1:n.-285-1131G>A
XR_922978.1:n.120-1131G>A
XR_922979.1:n.120-1131G>A