Canonical Allele Identifier: CA1346973839
Gene: TMEM43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14141654T= , CM000665.2:g.14141654T= GRCh38
NC_000003.11:g.14183154T= , CM000665.1:g.14183154T= GRCh37
NC_000003.10:g.14158155T= NCBI36
NG_008975.1:g.21715T= , LRG_435:g.21715T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1092T= ENSP00000395617.1:n.*1092T=
ENST00000306077.5:c.1062T= MANE Select ENSP00000303992.5:p.Cys354=
ENST00000306077.4:c.1062T= ENSP00000303992.4:p.Cys354=
ENST00000601399.3:n.327+2357T=
ENST00000608606.1:c.236+2357T=
NM_024334.2:c.1062T= , LRG_435t1:c.1062T= NP_077310.1:p.Cys354=
XM_011534109.1:c.957T= XP_011532411.1:p.Cys319=
XM_017007176.2:c.957T= XP_016862665.1:p.Cys319=
NM_024334.3:c.1062T= MANE Select NP_077310.1:p.Cys354=