Canonical Allele Identifier: CA2664568581
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14129565-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129565A>G , CM000665.2:g.14129565A>G GRCh38
NC_000003.11:g.14171065A>G , CM000665.1:g.14171065A>G GRCh37
NC_000003.10:g.14146066A>G NCBI36
NG_008975.1:g.9626A>G , LRG_435:g.9626A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*192+4A>G ENSP00000395617.1:n.*192+4A>G
ENST00000306077.5:c.162+4A>G MANE Select ENSP00000303992.5:n.162+4A>G
ENST00000306077.4:c.162+4A>G ENSP00000303992.4:n.162+4A>G
ENST00000432444.1:c.*192+4A>G ENSP00000395617.1:n.*192+4A>G
NM_024334.2:c.162+4A>G , LRG_435t1:c.162+4A>G NP_077310.1:n.162+4A>G
XM_011534109.1:c.57+4A>G XP_011532411.1:n.57+4A>G
XM_017007176.2:c.57+4A>G XP_016862665.1:n.57+4A>G
NM_024334.3:c.162+4A>G MANE Select NP_077310.1:n.162+4A>G