Canonical Allele Identifier: CA432552658
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14180778A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14139278A>T , CM000665.2:g.14139278A>T GRCh38
NC_000003.11:g.14180778A>T , CM000665.1:g.14180778A>T GRCh37
NC_000003.10:g.14155779A>T NCBI36
NG_008975.1:g.19339A>T , LRG_435:g.19339A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*1011A>T ENSP00000395617.1:n.*1011A>T
ENST00000306077.5:c.981A>T MANE Select ENSP00000303992.5:p.Thr327=
ENST00000306077.4:c.981A>T ENSP00000303992.4:p.Thr327=
ENST00000601399.3:n.308A>T
ENST00000608606.1:c.217A>T
NM_024334.2:c.981A>T , LRG_435t1:c.981A>T NP_077310.1:p.Thr327=
XM_011534109.1:c.876A>T XP_011532411.1:p.Thr292=
XM_017007176.2:c.876A>T XP_016862665.1:p.Thr292=
NM_024334.3:c.981A>T MANE Select NP_077310.1:p.Thr327=