Canonical Allele Identifier: CA024811
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 202115
ClinVar RCV Id: RCV000183935 RCV000642412 RCV002381611 RCV001181147
dbSNP Id: rs539753097
ExAC: 3:14170997 C / T
gnomAD v2: 3-14170997-C-T
gnomAD v3: 3-14129497-C-T
gnomAD v4: 3-14129497-C-T
MyVariant Identifiers: chr3:g.14170997C>T (hg19) chr3:g.14129497C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129497C>T , CM000665.2:g.14129497C>T GRCh38
NC_000003.11:g.14170997C>T , CM000665.1:g.14170997C>T GRCh37
NC_000003.10:g.14145998C>T NCBI36
NG_008975.1:g.9558C>T , LRG_435:g.9558C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*128C>T ENSP00000395617.1:n.*128C>T
ENST00000306077.5:c.98C>T MANE Select ENSP00000303992.5:p.Ser33Leu
ENST00000306077.4:c.98C>T ENSP00000303992.4:p.Ser33Leu
ENST00000432444.1:c.*128C>T ENSP00000395617.1:n.*128C>T
NM_024334.2:c.98C>T , LRG_435t1:c.98C>T NP_077310.1:p.Ser33Leu
XM_011534109.1:c.-8C>T XP_011532411.1:n.-8C>T
XM_017007176.2:c.-8C>T XP_016862665.1:n.-8C>T
NM_024334.3:c.98C>T MANE Select NP_077310.1:p.Ser33Leu
Search 100 bp 5'
Search 100 bp 3'