Canonical Allele Identifier: CA024712
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 46145
ClinVar RCV Id: RCV000039384 RCV003362677 RCV003764691
dbSNP Id: rs397517383
gnomAD v3: 3-14129450-T-G
gnomAD v4: 3-14129450-T-G
MyVariant Identifiers: chr3:g.14170950T>G (hg19) chr3:g.14129450T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129450T>G , CM000665.2:g.14129450T>G GRCh38
NC_000003.11:g.14170950T>G , CM000665.1:g.14170950T>G GRCh37
NC_000003.10:g.14145951T>G NCBI36
NG_008975.1:g.9511T>G , LRG_435:g.9511T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*81T>G ENSP00000395617.1:n.*81T>G
ENST00000306077.5:c.51T>G MANE Select ENSP00000303992.5:p.Val17=
ENST00000306077.4:c.51T>G ENSP00000303992.4:p.Val17=
ENST00000432444.1:c.*81T>G ENSP00000395617.1:n.*81T>G
NM_024334.2:c.51T>G , LRG_435t1:c.51T>G NP_077310.1:p.Val17=
XM_011534109.1:c.-55T>G XP_011532411.1:n.-55T>G
XM_017007176.2:c.-55T>G XP_016862665.1:n.-55T>G
NM_024334.3:c.51T>G MANE Select NP_077310.1:p.Val17=
Search 100 bp 5'
Search 100 bp 3'