Canonical Allele Identifier: CA024618
Gene: TMEM43 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.14130828G>A
GRCh37 chr3:g.14172328G>A
Revel Score:
ENST00000306077 (MANE Select) 0.262
gnomAD v2:
3:14172328 G / A
gnomAD v3:
3:14130828 G / A
gnomAD v4:
chr3-14130828-G-A
Joint Max Group AF 0.00003503 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003459 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130828G>A , CM000665.2:g.14130828G>A GRCh38
NC_000003.11:g.14172328G>A , CM000665.1:g.14172328G>A GRCh37
NC_000003.10:g.14147329G>A NCBI36
NG_008975.1:g.10889G>A , LRG_435:g.10889G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*199G>A ENSP00000395617.1:n.*199G>A
ENST00000306077.5:c.169G>A MANE Select ENSP00000303992.5:p.Ala57Thr
ENST00000306077.4:c.169G>A ENSP00000303992.4:p.Ala57Thr
ENST00000432444.1:c.*199G>A ENSP00000395617.1:n.*199G>A
NM_024334.2:c.169G>A , LRG_435t1:c.169G>A NP_077310.1:p.Ala57Thr
XM_011534109.1:c.64G>A XP_011532411.1:p.Ala22Thr
XM_017007176.2:c.64G>A XP_016862665.1:p.Ala22Thr
NM_024334.3:c.169G>A MANE Select NP_077310.1:p.Ala57Thr
Search 100 bp 5'
Search 100 bp 3'