Canonical Allele Identifier: CA412682009
Gene: TMEM47 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.34656995C>G , CM000685.2:g.34656995C>G GRCh38
NC_000023.10:g.34675112C>G , CM000685.1:g.34675112C>G GRCh37
NC_000023.9:g.34585033C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000275954.4:c.35G>C MANE Select ENSP00000275954.3:p.Arg12Pro
ENST00000275954.3:c.35G>C ENSP00000275954.3:p.Arg12Pro
NM_031442.3:c.35G>C NP_113630.1:p.Arg12Pro
NM_031442.4:c.35G>C MANE Select NP_113630.1:p.Arg12Pro