Canonical Allele Identifier: CA69728583
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 919942
ClinVar RCV Id: RCV001178420 RCV002068220 RCV003293929
dbSNP Id: rs147710692
gnomAD v4: 3-14129498-G-C
MyVariant Identifiers: chr3:g.14170998G>C (hg19) chr3:g.14129498G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129498G>C , CM000665.2:g.14129498G>C GRCh38
NC_000003.11:g.14170998G>C , CM000665.1:g.14170998G>C GRCh37
NC_000003.10:g.14145999G>C NCBI36
NG_008975.1:g.9559G>C , LRG_435:g.9559G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*129G>C ENSP00000395617.1:n.*129G>C
ENST00000306077.5:c.99G>C MANE Select ENSP00000303992.5:p.Ser33=
ENST00000306077.4:c.99G>C ENSP00000303992.4:p.Ser33=
ENST00000432444.1:c.*129G>C ENSP00000395617.1:n.*129G>C
NM_024334.2:c.99G>C , LRG_435t1:c.99G>C NP_077310.1:p.Ser33=
XM_011534109.1:c.-7G>C XP_011532411.1:n.-7G>C
XM_017007176.2:c.-7G>C XP_016862665.1:n.-7G>C
NM_024334.3:c.99G>C MANE Select NP_077310.1:p.Ser33=
Search 100 bp 5'
Search 100 bp 3'