Canonical Allele Identifier: CA1346972779
Gene: TMEM43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14139279C= , CM000665.2:g.14139279C= GRCh38
NC_000003.11:g.14180779C= , CM000665.1:g.14180779C= GRCh37
NC_000003.10:g.14155780C= NCBI36
NG_008975.1:g.19340C= , LRG_435:g.19340C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1012C= ENSP00000395617.1:n.*1012C=
ENST00000306077.5:c.982C= MANE Select ENSP00000303992.5:p.Arg328=
ENST00000306077.4:c.982C= ENSP00000303992.4:p.Arg328=
ENST00000601399.3:n.309C=
ENST00000608606.1:c.218C=
NM_024334.2:c.982C= , LRG_435t1:c.982C= NP_077310.1:p.Arg328=
XM_011534109.1:c.877C= XP_011532411.1:p.Arg293=
XM_017007176.2:c.877C= XP_016862665.1:p.Arg293=
NM_024334.3:c.982C= MANE Select NP_077310.1:p.Arg328=