Canonical Allele Identifier: CA1346972789
Gene: TMEM43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14139299T= , CM000665.2:g.14139299T= GRCh38
NC_000003.11:g.14180799T= , CM000665.1:g.14180799T= GRCh37
NC_000003.10:g.14155800T= NCBI36
NG_008975.1:g.19360T= , LRG_435:g.19360T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1030+2T= ENSP00000395617.1:n.*1030+2T=
ENST00000306077.5:c.1000+2T= MANE Select ENSP00000303992.5:n.1000+2T=
ENST00000306077.4:c.1000+2T= ENSP00000303992.4:n.1000+2T=
ENST00000601399.3:n.327+2T=
ENST00000608606.1:c.236+2T=
NM_024334.2:c.1000+2T= , LRG_435t1:c.1000+2T= NP_077310.1:n.1000+2T=
XM_011534109.1:c.895+2T= XP_011532411.1:n.895+2T=
XM_017007176.2:c.895+2T= XP_016862665.1:n.895+2T=
NM_024334.3:c.1000+2T= MANE Select NP_077310.1:n.1000+2T=