Canonical Allele Identifier: CA1346968563
Gene: TMEM43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130827C= , CM000665.2:g.14130827C= GRCh38
NC_000003.11:g.14172327C= , CM000665.1:g.14172327C= GRCh37
NC_000003.10:g.14147328C= NCBI36
NG_008975.1:g.10888C= , LRG_435:g.10888C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*198C= ENSP00000395617.1:n.*198C=
ENST00000306077.5:c.168C= MANE Select ENSP00000303992.5:p.Arg56=
ENST00000306077.4:c.168C= ENSP00000303992.4:p.Arg56=
ENST00000432444.1:c.*198C= ENSP00000395617.1:n.*198C=
NM_024334.2:c.168C= , LRG_435t1:c.168C= NP_077310.1:p.Arg56=
XM_011534109.1:c.63C= XP_011532411.1:p.Arg21=
XM_017007176.2:c.63C= XP_016862665.1:p.Arg21=
NM_024334.3:c.168C= MANE Select NP_077310.1:p.Arg56=