Canonical Allele Identifier: CA351533960
Gene: TMEM43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14125196G>C , CM000665.2:g.14125196G>C GRCh38
NC_000003.11:g.14166696G>C , CM000665.1:g.14166696G>C GRCh37
NC_000003.10:g.14141697G>C NCBI36
NG_008975.1:g.5257G>C , LRG_435:g.5257G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.3G>C ENSP00000395617.1:p.Met1Ile
ENST00000306077.5:c.3G>C MANE Select ENSP00000303992.5:p.Met1Ile
ENST00000306077.4:c.3G>C ENSP00000303992.4:p.Met1Ile
ENST00000432444.1:c.3G>C ENSP00000395617.1:p.Met1Ile
NM_024334.2:c.3G>C , LRG_435t1:c.3G>C NP_077310.1:p.Met1Ile
XM_017007176.2:c.-334G>C XP_016862665.1:n.-334G>C
NM_024334.3:c.3G>C MANE Select NP_077310.1:p.Met1Ile