Canonical Allele Identifier: CA024618
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 88981
ClinVar RCV Id: RCV000172115 RCV000074479 RCV000620642 RCV000845447 RCV001178362
dbSNP Id: rs151010429
ExAC: 3:14172328 G / A
gnomAD v2: 3-14172328-G-A
gnomAD v3: 3-14130828-G-A
gnomAD v4: 3-14130828-G-A
MyVariant Identifiers: chr3:g.14172328G>A (hg19) chr3:g.14130828G>A (hg38)
PubMed: PMID:23812740 PMID:23861362 PMID:26183555 PMID:27153395 PMID:28471438
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130828G>A , CM000665.2:g.14130828G>A GRCh38
NC_000003.11:g.14172328G>A , CM000665.1:g.14172328G>A GRCh37
NC_000003.10:g.14147329G>A NCBI36
NG_008975.1:g.10889G>A , LRG_435:g.10889G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*199G>A ENSP00000395617.1:n.*199G>A
ENST00000306077.5:c.169G>A MANE Select ENSP00000303992.5:p.Ala57Thr
ENST00000306077.4:c.169G>A ENSP00000303992.4:p.Ala57Thr
ENST00000432444.1:c.*199G>A ENSP00000395617.1:n.*199G>A
NM_024334.2:c.169G>A , LRG_435t1:c.169G>A NP_077310.1:p.Ala57Thr
XM_011534109.1:c.64G>A XP_011532411.1:p.Ala22Thr
XM_017007176.2:c.64G>A XP_016862665.1:p.Ala22Thr
NM_024334.3:c.169G>A MANE Select NP_077310.1:p.Ala57Thr
Search 100 bp 5'
Search 100 bp 3'