Canonical Allele Identifier: CA5176993

Gene: TMEM245

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.109091056C>A , CM000671.2:g.109091056C>A	GRCh38
NC_000009.11:g.111853336C>A , CM000671.1:g.111853336C>A	GRCh37
NC_000009.10:g.110893157C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032012.4:c.1016G>T MANE Select	NP_114401.2:p.Arg339Met
ENST00000374586.8:c.1016G>T MANE Select	ENSP00000363714.3:p.Arg339Met
NM_032012.3:c.1016G>T	NP_114401.2:p.Arg339Met
ENST00000374586.7:c.1016G>T	ENSP00000363714.3:p.Arg339Met
ENST00000413712.7:c.1016G>T	ENSP00000394798.3:p.Arg339Met
ENST00000491854.1:c.266G>T	ENSP00000417842.1:p.Arg89Met
XM_011518446.1:c.1013G>T	XP_011516748.1:p.Arg338Met
XM_011518446.2:c.1013G>T	XP_011516748.1:p.Arg338Met
XM_011518447.1:c.1016G>T	XP_011516749.1:p.Arg339Met
XM_011518448.1:c.1016G>T	XP_011516750.1:p.Arg339Met
XM_011518449.1:c.899G>T	XP_011516751.1:p.Arg300Met
XM_011518449.2:c.899G>T	XP_011516751.1:p.Arg300Met
XM_011518450.1:c.896G>T	XP_011516752.1:p.Arg299Met
XM_011518451.1:c.1016G>T	XP_011516753.1:p.Arg339Met
XM_011518452.1:c.916+2419G>T	XP_011516754.1:n.916+2419G>T
XM_011518452.2:c.916+2419G>T	XP_011516754.1:n.916+2419G>T
XM_017014571.1:c.1013G>T	XP_016870060.1:p.Arg338Met
XM_017014572.1:c.916+2419G>T	XP_016870061.1:n.916+2419G>T