Canonical Allele Identifier: CA351533964
Gene: TMEM43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125197G>A , CM000665.2:g.14125197G>A GRCh38
NC_000003.11:g.14166697G>A , CM000665.1:g.14166697G>A GRCh37
NC_000003.10:g.14141698G>A NCBI36
NG_008975.1:g.5258G>A , LRG_435:g.5258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.4G>A ENSP00000395617.1:p.Ala2Thr
ENST00000306077.5:c.4G>A MANE Select ENSP00000303992.5:p.Ala2Thr
ENST00000306077.4:c.4G>A ENSP00000303992.4:p.Ala2Thr
ENST00000432444.1:c.4G>A ENSP00000395617.1:p.Ala2Thr
NM_024334.2:c.4G>A , LRG_435t1:c.4G>A NP_077310.1:p.Ala2Thr
XM_017007176.2:c.-333G>A XP_016862665.1:n.-333G>A
NM_024334.3:c.4G>A MANE Select NP_077310.1:p.Ala2Thr