Canonical Allele Identifier: CA351534157
Gene: TMEM43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129412T>G , CM000665.2:g.14129412T>G GRCh38
NC_000003.11:g.14170912T>G , CM000665.1:g.14170912T>G GRCh37
NC_000003.10:g.14145913T>G NCBI36
NG_008975.1:g.9473T>G , LRG_435:g.9473T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000432444.2:c.*43T>G ENSP00000395617.1:n.*43T>G
ENST00000306077.5:c.13T>G MANE Select ENSP00000303992.5:p.Tyr5Asp
ENST00000306077.4:c.13T>G ENSP00000303992.4:p.Tyr5Asp
ENST00000432444.1:c.*43T>G ENSP00000395617.1:n.*43T>G
NM_024334.2:c.13T>G , LRG_435t1:c.13T>G NP_077310.1:p.Tyr5Asp
XM_011534109.1:c.-93T>G XP_011532411.1:n.-93T>G
XM_017007176.2:c.-93T>G XP_016862665.1:n.-93T>G
NM_024334.3:c.13T>G MANE Select NP_077310.1:p.Tyr5Asp