Canonical Allele Identifier: CA2174398

Gene: SAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233327196A>G , CM000664.2:g.233327196A>G	GRCh38
NC_000002.11:g.234235842A>G , CM000664.1:g.234235842A>G	GRCh37
NC_000002.10:g.233900581A>G	NCBI36
NG_009116.1:g.24534A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.511A>G MANE Select	ENSP00000386444.1:p.Lys171Glu
ENST00000409110.5:c.511A>G	ENSP00000386444.1:p.Lys171Glu
ENST00000412969.6:n.451A>G
ENST00000471884.5:n.682A>G
ENST00000474206.1:n.348A>G
ENST00000476500.5:n.552A>G
NM_000541.4:c.511A>G	NP_000532.2:p.Lys171Glu
XM_011511589.1:c.511A>G	XP_011509891.1:p.Lys171Glu
XM_011511590.1:c.511A>G	XP_011509892.1:p.Lys171Glu
XM_011511591.1:c.511A>G	XP_011509893.1:p.Lys171Glu
XM_011511592.1:c.355A>G	XP_011509894.1:p.Lys119Glu
XM_011511593.1:c.211A>G	XP_011509895.1:p.Lys71Glu
XM_011511594.1:c.139A>G	XP_011509896.1:p.Lys47Glu
XM_011511595.1:c.511A>G	XP_011509897.1:p.Lys171Glu
XM_011511596.1:c.109A>G	XP_011509898.1:p.Lys37Glu
XM_011511597.1:c.109A>G	XP_011509899.1:p.Lys37Glu
XR_922978.1:n.707A>G
XR_922979.1:n.707A>G
XR_922980.1:n.806A>G
XM_011511593.3:c.211A>G	XP_011509895.1:p.Lys71Glu
XM_017004641.1:c.511A>G	XP_016860130.1:p.Lys171Glu
XM_017004642.1:c.511A>G	XP_016860131.1:p.Lys171Glu
XM_017004643.1:c.511A>G	XP_016860132.1:p.Lys171Glu
XM_024453036.1:c.109A>G	XP_024308804.1:p.Lys37Glu
XR_001738882.1:n.588A>G
XR_922980.2:n.806A>G
NM_000541.5:c.511A>G MANE Select	NP_000532.2:p.Lys171Glu