Canonical Allele Identifier: CA351534449
Gene: TMEM43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129552C>A , CM000665.2:g.14129552C>A GRCh38
NC_000003.11:g.14171052C>A , CM000665.1:g.14171052C>A GRCh37
NC_000003.10:g.14146053C>A NCBI36
NG_008975.1:g.9613C>A , LRG_435:g.9613C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*183C>A ENSP00000395617.1:n.*183C>A
ENST00000306077.5:c.153C>A MANE Select ENSP00000303992.5:p.Phe51Leu
ENST00000306077.4:c.153C>A ENSP00000303992.4:p.Phe51Leu
ENST00000432444.1:c.*183C>A ENSP00000395617.1:n.*183C>A
NM_024334.2:c.153C>A , LRG_435t1:c.153C>A NP_077310.1:p.Phe51Leu
XM_011534109.1:c.48C>A XP_011532411.1:p.Phe16Leu
XM_017007176.2:c.48C>A XP_016862665.1:p.Phe16Leu
NM_024334.3:c.153C>A MANE Select NP_077310.1:p.Phe51Leu