Canonical Allele Identifier: CA1346973739
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs1574941999
gnomAD v4: 3-14141441-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141441A>G , CM000665.2:g.14141441A>G GRCh38
NC_000003.11:g.14182941A>G , CM000665.1:g.14182941A>G GRCh37
NC_000003.10:g.14157942A>G NCBI36
NG_008975.1:g.21502A>G , LRG_435:g.21502A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*1031-152A>G ENSP00000395617.1:n.*1031-152A>G
ENST00000306077.5:c.1001-152A>G MANE Select ENSP00000303992.5:n.1001-152A>G
ENST00000306077.4:c.1001-152A>G ENSP00000303992.4:n.1001-152A>G
ENST00000601399.3:n.327+2144A>G
ENST00000608606.1:c.236+2144A>G
NM_024334.2:c.1001-152A>G , LRG_435t1:c.1001-152A>G NP_077310.1:n.1001-152A>G
XM_011534109.1:c.896-152A>G XP_011532411.1:n.896-152A>G
XM_017007176.2:c.896-152A>G XP_016862665.1:n.896-152A>G
NM_024334.3:c.1001-152A>G MANE Select NP_077310.1:n.1001-152A>G
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