Canonical Allele Identifier: CA297196614

Gene: SS18

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.26052637C>A , CM000680.2:g.26052637C>A	GRCh38
NC_000018.9:g.23632601C>A , CM000680.1:g.23632601C>A	GRCh37
NC_000018.8:g.21886599C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415083.7:c.594G>T MANE Select	ENSP00000414516.2:p.Met198Ile
ENST00000269137.11:c.594G>T	ENSP00000269137.7:p.Met198Ile
ENST00000269138.9:c.*323G>T	ENSP00000269138.5:n.*323G>T
ENST00000415083.6:c.594G>T	ENSP00000414516.2:p.Met198Ile
ENST00000539244.6:c.*391G>T	ENSP00000441760.2:n.*391G>T
ENST00000542420.6:c.525G>T	ENSP00000438066.2:p.Met175Ile
ENST00000579640.5:c.*583G>T	ENSP00000462363.1:n.*583G>T
ENST00000585121.5:c.*458G>T	ENSP00000462838.1:n.*458G>T
ENST00000585241.5:n.714G>T
NM_001007559.1:c.594G>T	NP_001007560.1:p.Met198Ile
NM_001007559.2:c.594G>T	NP_001007560.1:p.Met198Ile
NM_001308201.1:c.525G>T	NP_001295130.1:p.Met175Ile
NM_005637.2:c.594G>T	NP_005628.2:p.Met198Ile
NM_005637.3:c.594G>T	NP_005628.2:p.Met198Ile
XM_006722527.1:c.348G>T	XP_006722590.1:p.Met116Ile
XM_011526145.1:c.525G>T	XP_011524447.1:p.Met175Ile
XM_011526146.1:c.525G>T	XP_011524448.1:p.Met175Ile
XM_011526147.1:c.438G>T	XP_011524449.1:p.Met146Ile
XM_011526148.1:c.438G>T	XP_011524450.1:p.Met146Ile
XM_011526149.1:c.438G>T	XP_011524451.1:p.Met146Ile
XM_011526150.1:c.438G>T	XP_011524452.1:p.Met146Ile
XM_011526151.1:c.438G>T	XP_011524453.1:p.Met146Ile
XM_011526152.1:c.438G>T	XP_011524454.1:p.Met146Ile
XM_006722527.2:c.348G>T	XP_006722590.1:p.Met116Ile
XM_011526147.2:c.438G>T	XP_011524449.1:p.Met146Ile
XM_011526148.2:c.438G>T	XP_011524450.1:p.Met146Ile
XM_011526149.2:c.438G>T	XP_011524451.1:p.Met146Ile
XM_011526150.2:c.438G>T	XP_011524452.1:p.Met146Ile
XM_011526151.2:c.438G>T	XP_011524453.1:p.Met146Ile
XM_011526152.2:c.438G>T	XP_011524454.1:p.Met146Ile
NM_001007559.3:c.594G>T MANE Select	NP_001007560.1:p.Met198Ile
NM_001308201.2:c.525G>T	NP_001295130.1:p.Met175Ile
NM_005637.4:c.594G>T	NP_005628.2:p.Met198Ile