Canonical Allele Identifier: CA1346968627
Gene: TMEM43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130927C= , CM000665.2:g.14130927C= GRCh38
NC_000003.11:g.14172427C= , CM000665.1:g.14172427C= GRCh37
NC_000003.10:g.14147428C= NCBI36
NG_008975.1:g.10988C= , LRG_435:g.10988C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*298C= ENSP00000395617.1:n.*298C=
ENST00000306077.5:c.268C= MANE Select ENSP00000303992.5:p.His90=
ENST00000306077.4:c.268C= ENSP00000303992.4:p.His90=
ENST00000432444.1:c.*298C= ENSP00000395617.1:n.*298C=
NM_024334.2:c.268C= , LRG_435t1:c.268C= NP_077310.1:p.His90=
XM_011534109.1:c.163C= XP_011532411.1:p.His55=
XM_017007176.2:c.163C= XP_016862665.1:p.His55=
NM_024334.3:c.268C= MANE Select NP_077310.1:p.His90=