Canonical Allele Identifier: CA4870213

Gene: TMEM65

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.124320159C>T , CM000670.2:g.124320159C>T	GRCh38
NC_000008.10:g.125332400C>T , CM000670.1:g.125332400C>T	GRCh37
NC_000008.9:g.125401581C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_194291.3:c.548G>A MANE Select	NP_919267.2:p.Arg183Lys
ENST00000297632.8:c.548G>A MANE Select	ENSP00000297632.6:p.Arg183Lys
NM_194291.2:c.548G>A	NP_919267.2:p.Arg183Lys
ENST00000297632.7:c.548G>A	ENSP00000297632.6:p.Arg183Lys
ENST00000704783.1:c.503G>A	ENSP00000516032.1:p.Arg168Lys
ENST00000704784.1:n.3072G>A
ENST00000704785.1:c.2102G>A	ENSP00000516033.1:n.2102G>A
ENST00000704786.1:c.143G>A	ENSP00000516034.1:p.Arg48Lys
ENST00000704787.1:n.804G>A
ENST00000704788.1:c.134G>A	ENSP00000516035.1:p.Arg45Lys
XM_011516847.1:c.548G>A	XP_011515149.1:p.Arg183Lys
XM_011516847.2:c.548G>A	XP_011515149.1:p.Arg183Lys
XM_017013104.1:c.134G>A	XP_016868593.1:p.Arg45Lys