Canonical Allele Identifier: CA351536152
Gene: TMEM43 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.14139215G>C , CM000665.2:g.14139215G>C GRCh38
NC_000003.11:g.14180715G>C , CM000665.1:g.14180715G>C GRCh37
NC_000003.10:g.14155716G>C NCBI36
NG_008975.1:g.19276G>C , LRG_435:g.19276G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000432444.2:c.*948G>C ENSP00000395617.1:n.*948G>C
ENST00000306077.5:c.918G>C MANE Select ENSP00000303992.5:p.Met306Ile
ENST00000306077.4:c.918G>C ENSP00000303992.4:p.Met306Ile
ENST00000601399.3:n.245G>C
ENST00000608606.1:c.154G>C
NM_024334.2:c.918G>C , LRG_435t1:c.918G>C NP_077310.1:p.Met306Ile
XM_011534109.1:c.813G>C XP_011532411.1:p.Met271Ile
XM_017007176.2:c.813G>C XP_016862665.1:p.Met271Ile
NM_024334.3:c.918G>C MANE Select NP_077310.1:p.Met306Ile