Canonical Allele Identifier: CA2525250514
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14141528-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141528A>C , CM000665.2:g.14141528A>C GRCh38
NC_000003.11:g.14183028A>C , CM000665.1:g.14183028A>C GRCh37
NC_000003.10:g.14158029A>C NCBI36
NG_008975.1:g.21589A>C , LRG_435:g.21589A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*1031-65A>C ENSP00000395617.1:n.*1031-65A>C
ENST00000306077.5:c.1001-65A>C MANE Select ENSP00000303992.5:n.1001-65A>C
ENST00000306077.4:c.1001-65A>C ENSP00000303992.4:n.1001-65A>C
ENST00000601399.3:n.327+2231A>C
ENST00000608606.1:c.236+2231A>C
NM_024334.2:c.1001-65A>C , LRG_435t1:c.1001-65A>C NP_077310.1:n.1001-65A>C
XM_011534109.1:c.896-65A>C XP_011532411.1:n.896-65A>C
XM_017007176.2:c.896-65A>C XP_016862665.1:n.896-65A>C
NM_024334.3:c.1001-65A>C MANE Select NP_077310.1:n.1001-65A>C