Canonical Allele Identifier: CA024699
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 178137
ClinVar RCV Id: RCV001191839 RCV001726009 RCV002336324
dbSNP Id: rs150334659
ExAC: 3:14170944 C / A
gnomAD v2: 3-14170944-C-A
gnomAD v3: 3-14129444-C-A
gnomAD v4: 3-14129444-C-A
MyVariant Identifiers: chr3:g.14170944C>A (hg19) chr3:g.14129444C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129444C>A , CM000665.2:g.14129444C>A GRCh38
NC_000003.11:g.14170944C>A , CM000665.1:g.14170944C>A GRCh37
NC_000003.10:g.14145945C>A NCBI36
NG_008975.1:g.9505C>A , LRG_435:g.9505C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*75C>A ENSP00000395617.1:n.*75C>A
ENST00000306077.5:c.45C>A MANE Select ENSP00000303992.5:p.Val15=
ENST00000306077.4:c.45C>A ENSP00000303992.4:p.Val15=
ENST00000432444.1:c.*75C>A ENSP00000395617.1:n.*75C>A
NM_024334.2:c.45C>A , LRG_435t1:c.45C>A NP_077310.1:p.Val15=
XM_011534109.1:c.-61C>A XP_011532411.1:n.-61C>A
XM_017007176.2:c.-61C>A XP_016862665.1:n.-61C>A
NM_024334.3:c.45C>A MANE Select NP_077310.1:p.Val15=
Search 100 bp 5'
Search 100 bp 3'