Canonical Allele Identifier: CA052802
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331778
ClinVar RCV Id: RCV001804294
dbSNP Id: rs765619239
ExAC: 3:14166695 T / A
gnomAD v2: 3-14166695-T-A
gnomAD v4: 3-14125195-T-A
MyVariant Identifiers: chr3:g.14166695T>A (hg19) chr3:g.14125195T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125195T>A , CM000665.2:g.14125195T>A GRCh38
NC_000003.11:g.14166695T>A , CM000665.1:g.14166695T>A GRCh37
NC_000003.10:g.14141696T>A NCBI36
NG_008975.1:g.5256T>A , LRG_435:g.5256T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.2T>A ENSP00000395617.1:p.Met1Lys
ENST00000306077.5:c.2T>A MANE Select ENSP00000303992.5:p.Met1Lys
ENST00000306077.4:c.2T>A ENSP00000303992.4:p.Met1Lys
ENST00000432444.1:c.2T>A ENSP00000395617.1:p.Met1Lys
NM_024334.2:c.2T>A , LRG_435t1:c.2T>A NP_077310.1:p.Met1Lys
XM_017007176.2:c.-335T>A XP_016862665.1:n.-335T>A
NM_024334.3:c.2T>A MANE Select NP_077310.1:p.Met1Lys
Search 100 bp 5'
Search 100 bp 3'