Canonical Allele Identifier: CA024602
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 179967
ClinVar RCV Id: RCV000156770 RCV001177858 RCV001345124
dbSNP Id: rs727505249
ExAC: 3:14170912 T / C
gnomAD v2: 3-14170912-T-C
gnomAD v3: 3-14129412-T-C
gnomAD v4: 3-14129412-T-C
MyVariant Identifiers: chr3:g.14170912T>C (hg19) chr3:g.14129412T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129412T>C , CM000665.2:g.14129412T>C GRCh38
NC_000003.11:g.14170912T>C , CM000665.1:g.14170912T>C GRCh37
NC_000003.10:g.14145913T>C NCBI36
NG_008975.1:g.9473T>C , LRG_435:g.9473T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*43T>C ENSP00000395617.1:n.*43T>C
ENST00000306077.5:c.13T>C MANE Select ENSP00000303992.5:p.Tyr5His
ENST00000306077.4:c.13T>C ENSP00000303992.4:p.Tyr5His
ENST00000432444.1:c.*43T>C ENSP00000395617.1:n.*43T>C
NM_024334.2:c.13T>C , LRG_435t1:c.13T>C NP_077310.1:p.Tyr5His
XM_011534109.1:c.-93T>C XP_011532411.1:n.-93T>C
XM_017007176.2:c.-93T>C XP_016862665.1:n.-93T>C
NM_024334.3:c.13T>C MANE Select NP_077310.1:p.Tyr5His
Search 100 bp 5'
Search 100 bp 3'