Canonical Allele Identifier: CA052861
Community Standard Title: NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)
Gene: TMEM43 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129430C>G , CM000665.2:g.14129430C>G GRCh38
NC_000003.11:g.14170930C>G , CM000665.1:g.14170930C>G GRCh37
NC_000003.10:g.14145931C>G NCBI36
NG_008975.1:g.9491C>G , LRG_435:g.9491C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024334.3:c.31C>G MANE Select NP_077310.1:p.Arg11Gly
ENST00000306077.5:c.31C>G MANE Select ENSP00000303992.5:p.Arg11Gly
NM_024334.2:c.31C>G , LRG_435t1:c.31C>G NP_077310.1:p.Arg11Gly
ENST00000306077.4:c.31C>G ENSP00000303992.4:p.Arg11Gly
ENST00000432444.1:c.*61C>G ENSP00000395617.1:n.*61C>G
ENST00000432444.2:c.*61C>G ENSP00000395617.1:n.*61C>G
XM_011534109.1:c.-75C>G XP_011532411.1:n.-75C>G
XM_017007176.2:c.-75C>G XP_016862665.1:n.-75C>G
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