Canonical Allele Identifier: CA351534185
Gene: TMEM43 HGNC NCBI

Linked Data

gnomAD v4: 3-14129426-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129426T>A , CM000665.2:g.14129426T>A GRCh38
NC_000003.11:g.14170926T>A , CM000665.1:g.14170926T>A GRCh37
NC_000003.10:g.14145927T>A NCBI36
NG_008975.1:g.9487T>A , LRG_435:g.9487T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*57T>A ENSP00000395617.1:n.*57T>A
ENST00000306077.5:c.27T>A MANE Select ENSP00000303992.5:p.Ser9Arg
ENST00000306077.4:c.27T>A ENSP00000303992.4:p.Ser9Arg
ENST00000432444.1:c.*57T>A ENSP00000395617.1:n.*57T>A
NM_024334.2:c.27T>A , LRG_435t1:c.27T>A NP_077310.1:p.Ser9Arg
XM_011534109.1:c.-79T>A XP_011532411.1:n.-79T>A
XM_017007176.2:c.-79T>A XP_016862665.1:n.-79T>A
NM_024334.3:c.27T>A MANE Select NP_077310.1:p.Ser9Arg