Canonical Allele Identifier: CA432551027
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 2201704
ClinVar RCV Id: RCV002644456
dbSNP Id: rs1474026817
gnomAD v3: 3-14129501-T-A
gnomAD v4: 3-14129501-T-A
MyVariant Identifiers: chr3:g.14171001T>A (hg19) chr3:g.14129501T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129501T>A , CM000665.2:g.14129501T>A GRCh38
NC_000003.11:g.14171001T>A , CM000665.1:g.14171001T>A GRCh37
NC_000003.10:g.14146002T>A NCBI36
NG_008975.1:g.9562T>A , LRG_435:g.9562T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*132T>A ENSP00000395617.1:n.*132T>A
ENST00000306077.5:c.102T>A MANE Select ENSP00000303992.5:p.Gly34=
ENST00000306077.4:c.102T>A ENSP00000303992.4:p.Gly34=
ENST00000432444.1:c.*132T>A ENSP00000395617.1:n.*132T>A
NM_024334.2:c.102T>A , LRG_435t1:c.102T>A NP_077310.1:p.Gly34=
XM_011534109.1:c.-4T>A XP_011532411.1:n.-4T>A
XM_017007176.2:c.-4T>A XP_016862665.1:n.-4T>A
NM_024334.3:c.102T>A MANE Select NP_077310.1:p.Gly34=
Search 100 bp 5'
Search 100 bp 3'