Canonical Allele Identifier: CA350316042
Community Standard Title: NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
Gene: TMEM237 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201636873A>G , CM000664.2:g.201636873A>G GRCh38
NC_000002.11:g.202501596A>G , CM000664.1:g.202501596A>G GRCh37
NC_000002.10:g.202209841A>G NCBI36
NG_032049.1:g.11657T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001044385.3:c.149T>C MANE Select NP_001037850.1:p.Leu50Ser
ENST00000409883.7:c.149T>C MANE Select ENSP00000386264.2:p.Leu50Ser
NM_001044385.2:c.149T>C NP_001037850.1:p.Leu50Ser
NM_152388.3:c.125T>C NP_689601.2:p.Leu42Ser
NM_152388.4:c.125T>C NP_689601.2:p.Leu42Ser
ENST00000286196.9:c.70T>C ENSP00000286196.5:p.Trp24Arg
ENST00000409444.6:c.125T>C ENSP00000387203.2:p.Leu42Ser
ENST00000409883.6:c.149T>C ENSP00000386264.2:p.Leu50Ser
ENST00000432684.6:c.149T>C ENSP00000413230.2:p.Leu50Ser
ENST00000444047.6:c.149T>C ENSP00000402681.2:p.Leu50Ser
ENST00000471318.6:n.39T>C
ENST00000480124.1:n.56T>C
ENST00000489550.5:n.162T>C
ENST00000621467.4:c.125T>C ENSP00000480508.1:p.Leu42Ser
ENST00000621467.5:c.23T>C ENSP00000480508.2:p.Leu8Ser