Canonical Allele Identifier: CA623583503
Community Standard Title: NM_001077418.3(TMEM231):c.438+5G>C
Gene: TMEM231 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75545821C>G , CM000678.2:g.75545821C>G GRCh38
NC_000016.9:g.75579719C>G , CM000678.1:g.75579719C>G GRCh37
NC_000016.8:g.74137220C>G NCBI36
NG_033109.1:g.15466G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001077418.3:c.438+5G>C MANE Select NP_001070886.1:n.438+5G>C
ENST00000258173.11:c.438+5G>C MANE Select ENSP00000258173.5:n.438+5G>C
NM_001077416.2:c.597+5G>C NP_001070884.2:n.597+5G>C
NM_001077418.2:c.438+5G>C NP_001070886.1:n.438+5G>C
NR_074083.1:n.638+5G>C
NR_074083.2:n.604+5G>C
ENST00000258173.10:c.438+5G>C ENSP00000258173.5:n.438+5G>C
ENST00000562410.5:c.*240+5G>C ENSP00000454582.1:n.*240+5G>C
ENST00000564576.1:n.346-3138G>C
ENST00000565067.5:c.438+5G>C ENSP00000457254.1:n.438+5G>C
ENST00000568377.5:c.525+5G>C ENSP00000476267.1:n.525+5G>C
ENST00000569294.1:n.182+5G>C
ENST00000570006.5:c.400+43G>C ENSP00000455520.1:n.400+43G>C
ENST00000685935.1:c.*240+5G>C ENSP00000510128.1:n.*240+5G>C
ENST00000686547.1:c.*399+5G>C ENSP00000508790.1:n.*399+5G>C
ENST00000686680.1:c.123+43G>C ENSP00000508892.1:n.123+43G>C
ENST00000688195.1:c.66+43G>C ENSP00000510115.1:n.66+43G>C
ENST00000688270.1:c.438+5G>C ENSP00000509823.1:n.438+5G>C
ENST00000688618.1:c.*240+5G>C ENSP00000509271.1:n.*240+5G>C
ENST00000689040.1:c.*240+5G>C ENSP00000508573.1:n.*240+5G>C
ENST00000692097.1:c.*189+5G>C ENSP00000509668.1:n.*189+5G>C
ENST00000692689.1:c.90+5G>C ENSP00000509732.1:n.90+5G>C
ENST00000693457.1:c.*240+5G>C ENSP00000508414.1:n.*240+5G>C
ENST00000693682.1:c.438+5G>C ENSP00000508670.1:n.438+5G>C