Canonical Allele Identifier: CA351534331
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1348526
ClinVar RCV Id: RCV002050856
dbSNP Id: rs1376541965
gnomAD v2: 3-14170999-G-A
gnomAD v4: 3-14129499-G-A
MyVariant Identifiers: chr3:g.14170999G>A (hg19) chr3:g.14129499G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129499G>A , CM000665.2:g.14129499G>A GRCh38
NC_000003.11:g.14170999G>A , CM000665.1:g.14170999G>A GRCh37
NC_000003.10:g.14146000G>A NCBI36
NG_008975.1:g.9560G>A , LRG_435:g.9560G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*130G>A ENSP00000395617.1:n.*130G>A
ENST00000306077.5:c.100G>A MANE Select ENSP00000303992.5:p.Gly34Ser
ENST00000306077.4:c.100G>A ENSP00000303992.4:p.Gly34Ser
ENST00000432444.1:c.*130G>A ENSP00000395617.1:n.*130G>A
NM_024334.2:c.100G>A , LRG_435t1:c.100G>A NP_077310.1:p.Gly34Ser
XM_011534109.1:c.-6G>A XP_011532411.1:n.-6G>A
XM_017007176.2:c.-6G>A XP_016862665.1:n.-6G>A
NM_024334.3:c.100G>A MANE Select NP_077310.1:p.Gly34Ser
Search 100 bp 5'
Search 100 bp 3'