Canonical Allele Identifier: CA8176289
Community Standard Title: NM_001077418.3(TMEM231):c.139+47C>A
Gene: TMEM231 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75556024G>T , CM000678.2:g.75556024G>T GRCh38
NC_000016.9:g.75589922G>T , CM000678.1:g.75589922G>T GRCh37
NC_000016.8:g.74147423G>T NCBI36
NG_033109.1:g.5263C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001077418.3:c.139+47C>A MANE Select NP_001070886.1:n.139+47C>A
ENST00000258173.11:c.139+47C>A MANE Select ENSP00000258173.5:n.139+47C>A
NM_001077416.2:c.248C>A NP_001070884.2:p.Ser83Ter
NM_001077418.2:c.139+47C>A NP_001070886.1:n.139+47C>A
NR_074083.1:n.216+47C>A
NR_074083.2:n.182+47C>A
ENST00000258173.10:c.139+47C>A ENSP00000258173.5:n.139+47C>A
ENST00000561809.1:n.239C>A
ENST00000562410.5:c.139+47C>A ENSP00000454582.1:n.139+47C>A
ENST00000564576.1:n.175+47C>A
ENST00000565067.5:c.139+47C>A ENSP00000457254.1:n.139+47C>A
ENST00000568377.5:c.176C>A ENSP00000476267.1:p.Ser59Ter
ENST00000570006.5:c.139+47C>A ENSP00000455520.1:n.139+47C>A
ENST00000685935.1:c.139+47C>A ENSP00000510128.1:n.139+47C>A
ENST00000686547.1:c.139+47C>A ENSP00000508790.1:n.139+47C>A
ENST00000688270.1:c.139+47C>A ENSP00000509823.1:n.139+47C>A
ENST00000688618.1:c.139+47C>A ENSP00000509271.1:n.139+47C>A
ENST00000689040.1:c.139+47C>A ENSP00000508573.1:n.139+47C>A
ENST00000692097.1:c.139+47C>A ENSP00000509668.1:n.139+47C>A
ENST00000692215.1:n.182+47C>A
ENST00000693457.1:c.139+47C>A ENSP00000508414.1:n.139+47C>A
ENST00000693682.1:c.139+47C>A ENSP00000508670.1:n.139+47C>A