Canonical Allele Identifier: CA2664568576
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14129401-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129401T>A , CM000665.2:g.14129401T>A GRCh38
NC_000003.11:g.14170901T>A , CM000665.1:g.14170901T>A GRCh37
NC_000003.10:g.14145902T>A NCBI36
NG_008975.1:g.9462T>A , LRG_435:g.9462T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*43-11T>A ENSP00000395617.1:n.*43-11T>A
ENST00000306077.5:c.13-11T>A MANE Select ENSP00000303992.5:n.13-11T>A
ENST00000306077.4:c.13-11T>A ENSP00000303992.4:n.13-11T>A
ENST00000432444.1:c.*43-11T>A ENSP00000395617.1:n.*43-11T>A
NM_024334.2:c.13-11T>A , LRG_435t1:c.13-11T>A NP_077310.1:n.13-11T>A
XM_011534109.1:c.-93-11T>A XP_011532411.1:n.-93-11T>A
XM_017007176.2:c.-93-11T>A XP_016862665.1:n.-93-11T>A
NM_024334.3:c.13-11T>A MANE Select NP_077310.1:n.13-11T>A
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