Canonical Allele Identifier: CA374432693

Gene: TMEM245

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.109090930G>C , CM000671.2:g.109090930G>C	GRCh38
NC_000009.11:g.111853210G>C , CM000671.1:g.111853210G>C	GRCh37
NC_000009.10:g.110893031G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413712.7:c.1142C>G	ENSP00000394798.3:p.Pro381Arg
ENST00000374586.8:c.1142C>G MANE Select	ENSP00000363714.3:p.Pro381Arg
ENST00000374586.7:c.1142C>G	ENSP00000363714.3:p.Pro381Arg
ENST00000491854.1:c.392C>G	ENSP00000417842.1:p.Pro131Arg
NM_032012.3:c.1142C>G	NP_114401.2:p.Pro381Arg
XM_011518446.1:c.1139C>G	XP_011516748.1:p.Pro380Arg
XM_011518447.1:c.1142C>G	XP_011516749.1:p.Pro381Arg
XM_011518448.1:c.1142C>G	XP_011516750.1:p.Pro381Arg
XM_011518449.1:c.1025C>G	XP_011516751.1:p.Pro342Arg
XM_011518450.1:c.1022C>G	XP_011516752.1:p.Pro341Arg
XM_011518451.1:c.1142C>G	XP_011516753.1:p.Pro381Arg
XM_011518452.1:c.916+2545C>G	XP_011516754.1:n.916+2545C>G
XM_011518446.2:c.1139C>G	XP_011516748.1:p.Pro380Arg
XM_011518449.2:c.1025C>G	XP_011516751.1:p.Pro342Arg
XM_011518452.2:c.916+2545C>G	XP_011516754.1:n.916+2545C>G
XM_017014571.1:c.1139C>G	XP_016870060.1:p.Pro380Arg
XM_017014572.1:c.916+2545C>G	XP_016870061.1:n.916+2545C>G
NM_032012.4:c.1142C>G MANE Select	NP_114401.2:p.Pro381Arg