Canonical Allele Identifier: CA1346973833
Gene: TMEM43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141642C= , CM000665.2:g.14141642C= GRCh38
NC_000003.11:g.14183142C= , CM000665.1:g.14183142C= GRCh37
NC_000003.10:g.14158143C= NCBI36
NG_008975.1:g.21703C= , LRG_435:g.21703C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1080C= ENSP00000395617.1:n.*1080C=
ENST00000306077.5:c.1050C= MANE Select ENSP00000303992.5:p.Ala350=
ENST00000306077.4:c.1050C= ENSP00000303992.4:p.Ala350=
ENST00000601399.3:n.327+2345C=
ENST00000608606.1:c.236+2345C=
NM_024334.2:c.1050C= , LRG_435t1:c.1050C= NP_077310.1:p.Ala350=
XM_011534109.1:c.945C= XP_011532411.1:p.Ala315=
XM_017007176.2:c.945C= XP_016862665.1:p.Ala315=
NM_024334.3:c.1050C= MANE Select NP_077310.1:p.Ala350=