Canonical Allele Identifier: CA351534328
Gene: TMEM43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14129496T>C , CM000665.2:g.14129496T>C GRCh38
NC_000003.11:g.14170996T>C , CM000665.1:g.14170996T>C GRCh37
NC_000003.10:g.14145997T>C NCBI36
NG_008975.1:g.9557T>C , LRG_435:g.9557T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*127T>C ENSP00000395617.1:n.*127T>C
ENST00000306077.5:c.97T>C MANE Select ENSP00000303992.5:p.Ser33Pro
ENST00000306077.4:c.97T>C ENSP00000303992.4:p.Ser33Pro
ENST00000432444.1:c.*127T>C ENSP00000395617.1:n.*127T>C
NM_024334.2:c.97T>C , LRG_435t1:c.97T>C NP_077310.1:p.Ser33Pro
XM_011534109.1:c.-9T>C XP_011532411.1:n.-9T>C
XM_017007176.2:c.-9T>C XP_016862665.1:n.-9T>C
NM_024334.3:c.97T>C MANE Select NP_077310.1:p.Ser33Pro