Canonical Allele Identifier: CA2174442

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233328553G>A , CM000664.2:g.233328553G>A	GRCh38
NC_000002.11:g.234237199G>A , CM000664.1:g.234237199G>A	GRCh37
NC_000002.10:g.233901938G>A	NCBI36
NG_009116.1:g.25891G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000541.5:c.588G>A MANE Select	NP_000532.2:p.Ala196=
ENST00000409110.6:c.588G>A MANE Select	ENSP00000386444.1:p.Ala196=
NM_000541.4:c.588G>A	NP_000532.2:p.Ala196=
ENST00000409110.5:c.588G>A	ENSP00000386444.1:p.Ala196=
ENST00000412969.6:n.1808G>A
ENST00000469222.5:n.605G>A
ENST00000471884.5:n.2039G>A
ENST00000474206.1:n.425G>A
ENST00000476500.5:n.1909G>A
XM_011511589.1:c.588G>A	XP_011509891.1:p.Ala196=
XM_011511590.1:c.588G>A	XP_011509892.1:p.Ala196=
XM_011511591.1:c.588G>A	XP_011509893.1:p.Ala196=
XM_011511592.1:c.432G>A	XP_011509894.1:p.Ala144=
XM_011511593.1:c.288G>A	XP_011509895.1:p.Ala96=
XM_011511593.3:c.288G>A	XP_011509895.1:p.Ala96=
XM_011511594.1:c.216G>A	XP_011509896.1:p.Ala72=
XM_011511595.1:c.588G>A	XP_011509897.1:p.Ala196=
XM_011511596.1:c.186G>A	XP_011509898.1:p.Ala62=
XM_011511597.1:c.186G>A	XP_011509899.1:p.Ala62=
XM_017004641.1:c.588G>A	XP_016860130.1:p.Ala196=
XM_017004642.1:c.588G>A	XP_016860131.1:p.Ala196=
XM_017004643.1:c.588G>A	XP_016860132.1:p.Ala196=
XM_024453036.1:c.186G>A	XP_024308804.1:p.Ala62=
XR_001738882.1:n.665G>A
XR_922978.1:n.784G>A
XR_922979.1:n.784G>A
XR_922980.1:n.883G>A
XR_922980.2:n.883G>A