Canonical Allele Identifier: CA351534155
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1172220
ClinVar RCV Id: RCV001525900
dbSNP Id: rs2124985459
MyVariant Identifiers: chr3:g.14170911G>C (hg19) chr3:g.14129411G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129411G>C , CM000665.2:g.14129411G>C GRCh38
NC_000003.11:g.14170911G>C , CM000665.1:g.14170911G>C GRCh37
NC_000003.10:g.14145912G>C NCBI36
NG_008975.1:g.9472G>C , LRG_435:g.9472G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*43-1G>C ENSP00000395617.1:n.*43-1G>C
ENST00000306077.5:c.13-1G>C MANE Select ENSP00000303992.5:n.13-1G>C
ENST00000306077.4:c.13-1G>C ENSP00000303992.4:n.13-1G>C
ENST00000432444.1:c.*43-1G>C ENSP00000395617.1:n.*43-1G>C
NM_024334.2:c.13-1G>C , LRG_435t1:c.13-1G>C NP_077310.1:n.13-1G>C
XM_011534109.1:c.-93-1G>C XP_011532411.1:n.-93-1G>C
XM_017007176.2:c.-93-1G>C XP_016862665.1:n.-93-1G>C
NM_024334.3:c.13-1G>C MANE Select NP_077310.1:n.13-1G>C
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