Canonical Allele Identifier: CA432552581
Gene: TMEM43 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.14180733G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14139233G>T , CM000665.2:g.14139233G>T GRCh38
NC_000003.11:g.14180733G>T , CM000665.1:g.14180733G>T GRCh37
NC_000003.10:g.14155734G>T NCBI36
NG_008975.1:g.19294G>T , LRG_435:g.19294G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*966G>T ENSP00000395617.1:n.*966G>T
ENST00000306077.5:c.936G>T MANE Select ENSP00000303992.5:p.Arg312=
ENST00000306077.4:c.936G>T ENSP00000303992.4:p.Arg312=
ENST00000601399.3:n.263G>T
ENST00000608606.1:c.172G>T
NM_024334.2:c.936G>T , LRG_435t1:c.936G>T NP_077310.1:p.Arg312=
XM_011534109.1:c.831G>T XP_011532411.1:p.Arg277=
XM_017007176.2:c.831G>T XP_016862665.1:p.Arg277=
NM_024334.3:c.936G>T MANE Select NP_077310.1:p.Arg312=