Canonical Allele Identifier: CA2664568569
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14129393-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129393A>G , CM000665.2:g.14129393A>G GRCh38
NC_000003.11:g.14170893A>G , CM000665.1:g.14170893A>G GRCh37
NC_000003.10:g.14145894A>G NCBI36
NG_008975.1:g.9454A>G , LRG_435:g.9454A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*43-19A>G ENSP00000395617.1:n.*43-19A>G
ENST00000306077.5:c.13-19A>G MANE Select ENSP00000303992.5:n.13-19A>G
ENST00000306077.4:c.13-19A>G ENSP00000303992.4:n.13-19A>G
ENST00000432444.1:c.*43-19A>G ENSP00000395617.1:n.*43-19A>G
NM_024334.2:c.13-19A>G , LRG_435t1:c.13-19A>G NP_077310.1:n.13-19A>G
XM_011534109.1:c.-93-19A>G XP_011532411.1:n.-93-19A>G
XM_017007176.2:c.-93-19A>G XP_016862665.1:n.-93-19A>G
NM_024334.3:c.13-19A>G MANE Select NP_077310.1:n.13-19A>G
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