Canonical Allele Identifier: CA1045276776
Gene: TMEM43 HGNC NCBI

Linked Data

dbSNP Id: rs1695065961
gnomAD v3: 3-14129568-T-C
gnomAD v4: 3-14129568-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129568T>C , CM000665.2:g.14129568T>C GRCh38
NC_000003.11:g.14171068T>C , CM000665.1:g.14171068T>C GRCh37
NC_000003.10:g.14146069T>C NCBI36
NG_008975.1:g.9629T>C , LRG_435:g.9629T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*192+7T>C ENSP00000395617.1:n.*192+7T>C
ENST00000306077.5:c.162+7T>C MANE Select ENSP00000303992.5:n.162+7T>C
ENST00000306077.4:c.162+7T>C ENSP00000303992.4:n.162+7T>C
ENST00000432444.1:c.*192+7T>C ENSP00000395617.1:n.*192+7T>C
NM_024334.2:c.162+7T>C , LRG_435t1:c.162+7T>C NP_077310.1:n.162+7T>C
XM_011534109.1:c.57+7T>C XP_011532411.1:n.57+7T>C
XM_017007176.2:c.57+7T>C XP_016862665.1:n.57+7T>C
NM_024334.3:c.162+7T>C MANE Select NP_077310.1:n.162+7T>C
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