Canonical Allele Identifier: CA2266934
Gene: TMEM43 HGNC NCBI

Linked Data

ClinVar Variation Id: 414170
ClinVar RCV Id: RCV000458935 RCV001175836 RCV001528591 RCV001700187
dbSNP Id: rs372434224
ExAC: 3:14172316 T / A
gnomAD v2: 3-14172316-T-A
gnomAD v3: 3-14130816-T-A
gnomAD v4: 3-14130816-T-A
MyVariant Identifiers: chr3:g.14172316T>A (hg19) chr3:g.14172316_14172317delinsAC (hg19) chr3:g.14130816T>A (hg38) chr3:g.14130816_14130817delinsAC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130816T>A , CM000665.2:g.14130816T>A GRCh38
NC_000003.11:g.14172316T>A , CM000665.1:g.14172316T>A GRCh37
NC_000003.10:g.14147317T>A NCBI36
NG_008975.1:g.10877T>A , LRG_435:g.10877T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*193-6T>A ENSP00000395617.1:n.*193-6T>A
ENST00000306077.5:c.163-6T>A MANE Select ENSP00000303992.5:n.163-6T>A
ENST00000306077.4:c.163-6T>A ENSP00000303992.4:n.163-6T>A
ENST00000432444.1:c.*193-6T>A ENSP00000395617.1:n.*193-6T>A
NM_024334.2:c.163-6T>A , LRG_435t1:c.163-6T>A NP_077310.1:n.163-6T>A
XM_011534109.1:c.58-6T>A XP_011532411.1:n.58-6T>A
XM_017007176.2:c.58-6T>A XP_016862665.1:n.58-6T>A
NM_024334.3:c.163-6T>A MANE Select NP_077310.1:n.163-6T>A
Search 100 bp 5'
Search 100 bp 3'