Canonical Allele Identifier: CA1346968564
Gene: TMEM43 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14130828G= , CM000665.2:g.14130828G= GRCh38
NC_000003.11:g.14172328G= , CM000665.1:g.14172328G= GRCh37
NC_000003.10:g.14147329G= NCBI36
NG_008975.1:g.10889G= , LRG_435:g.10889G=

Transcript Alleles

HGVS Amino-acid Change
NM_024334.3:c.169G= MANE Select NP_077310.1:p.Ala57=
ENST00000306077.5:c.169G= MANE Select ENSP00000303992.5:p.Ala57=
NM_024334.2:c.169G= , LRG_435t1:c.169G= NP_077310.1:p.Ala57=
ENST00000306077.4:c.169G= ENSP00000303992.4:p.Ala57=
ENST00000432444.1:c.*199G= ENSP00000395617.1:n.*199G=
ENST00000432444.2:c.*199G= ENSP00000395617.1:n.*199G=
XM_011534109.1:c.64G= XP_011532411.1:p.Ala22=
XM_017007176.2:c.64G= XP_016862665.1:p.Ala22=