Canonical Allele Identifier: CA351536466
Gene: TMEM43 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1092T>G ENSP00000395617.1:n.*1092T>G
ENST00000306077.5:c.1062T>G MANE Select ENSP00000303992.5:p.Cys354Trp
ENST00000306077.4:c.1062T>G ENSP00000303992.4:p.Cys354Trp
ENST00000601399.3:n.327+2357T>G
ENST00000608606.1:c.236+2357T>G
NM_024334.2:c.1062T>G , LRG_435t1:c.1062T>G NP_077310.1:p.Cys354Trp
XM_011534109.1:c.957T>G XP_011532411.1:p.Cys319Trp
XM_017007176.2:c.957T>G XP_016862665.1:p.Cys319Trp
NM_024334.3:c.1062T>G MANE Select NP_077310.1:p.Cys354Trp