Canonical Allele Identifier: CA051888
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1773972
ClinVar RCV Id: RCV002389889 RCV003095243
dbSNP Id: rs753209951
ExAC: 3:14170913 A / G
gnomAD v3: 3-14129413-A-G
gnomAD v4: 3-14129413-A-G
MyVariant Identifiers: chr3:g.14170913A>G (hg19) chr3:g.14129413A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129413A>G , CM000665.2:g.14129413A>G GRCh38
NC_000003.11:g.14170913A>G , CM000665.1:g.14170913A>G GRCh37
NC_000003.10:g.14145914A>G NCBI36
NG_008975.1:g.9474A>G , LRG_435:g.9474A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*44A>G ENSP00000395617.1:n.*44A>G
ENST00000306077.5:c.14A>G MANE Select ENSP00000303992.5:p.Tyr5Cys
ENST00000306077.4:c.14A>G ENSP00000303992.4:p.Tyr5Cys
ENST00000432444.1:c.*44A>G ENSP00000395617.1:n.*44A>G
NM_024334.2:c.14A>G , LRG_435t1:c.14A>G NP_077310.1:p.Tyr5Cys
XM_011534109.1:c.-92A>G XP_011532411.1:n.-92A>G
XM_017007176.2:c.-92A>G XP_016862665.1:n.-92A>G
NM_024334.3:c.14A>G MANE Select NP_077310.1:p.Tyr5Cys
Search 100 bp 5'
Search 100 bp 3'