Canonical Allele Identifier: CA402079906

Gene: SS18

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26038599C>T , CM000680.2:g.26038599C>T	GRCh38
NC_000018.9:g.23618563C>T , CM000680.1:g.23618563C>T	GRCh37
NC_000018.8:g.21872561C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415083.7:c.836G>A MANE Select	ENSP00000414516.2:p.Gly279Glu
ENST00000269137.11:c.836G>A	ENSP00000269137.7:p.Gly279Glu
ENST00000269138.9:c.*565G>A	ENSP00000269138.5:n.*565G>A
ENST00000415083.6:c.836G>A	ENSP00000414516.2:p.Gly279Glu
ENST00000539244.6:c.*633G>A	ENSP00000441760.2:n.*633G>A
ENST00000542420.6:c.767G>A	ENSP00000438066.2:p.Gly256Glu
ENST00000579640.5:c.*825G>A	ENSP00000462363.1:n.*825G>A
ENST00000585121.5:c.*700G>A	ENSP00000462838.1:n.*700G>A
NM_001007559.1:c.836G>A	NP_001007560.1:p.Gly279Glu
NM_001007559.2:c.836G>A	NP_001007560.1:p.Gly279Glu
NM_001308201.1:c.767G>A	NP_001295130.1:p.Gly256Glu
NM_005637.2:c.836G>A	NP_005628.2:p.Gly279Glu
NM_005637.3:c.836G>A	NP_005628.2:p.Gly279Glu
XM_006722527.1:c.590G>A	XP_006722590.1:p.Gly197Glu
XM_011526145.1:c.767G>A	XP_011524447.1:p.Gly256Glu
XM_011526146.1:c.767G>A	XP_011524448.1:p.Gly256Glu
XM_011526147.1:c.680G>A	XP_011524449.1:p.Gly227Glu
XM_011526148.1:c.680G>A	XP_011524450.1:p.Gly227Glu
XM_011526149.1:c.680G>A	XP_011524451.1:p.Gly227Glu
XM_011526150.1:c.680G>A	XP_011524452.1:p.Gly227Glu
XM_011526151.1:c.680G>A	XP_011524453.1:p.Gly227Glu
XM_011526152.1:c.680G>A	XP_011524454.1:p.Gly227Glu
XM_006722527.2:c.590G>A	XP_006722590.1:p.Gly197Glu
XM_011526147.2:c.680G>A	XP_011524449.1:p.Gly227Glu
XM_011526148.2:c.680G>A	XP_011524450.1:p.Gly227Glu
XM_011526149.2:c.680G>A	XP_011524451.1:p.Gly227Glu
XM_011526150.2:c.680G>A	XP_011524452.1:p.Gly227Glu
XM_011526151.2:c.680G>A	XP_011524453.1:p.Gly227Glu
XM_011526152.2:c.680G>A	XP_011524454.1:p.Gly227Glu
NM_001007559.3:c.836G>A MANE Select	NP_001007560.1:p.Gly279Glu
NM_001308201.2:c.767G>A	NP_001295130.1:p.Gly256Glu
NM_005637.4:c.836G>A	NP_005628.2:p.Gly279Glu