Canonical Allele Identifier: CA350314363
Community Standard Title: NM_001044385.3(TMEM237):c.278T>C (p.Leu93Ser)
Gene: TMEM237 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201633428A>G , CM000664.2:g.201633428A>G GRCh38
NC_000002.11:g.202498151A>G , CM000664.1:g.202498151A>G GRCh37
NC_000002.10:g.202206396A>G NCBI36
NG_032049.1:g.15102T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001044385.3:c.278T>C MANE Select NP_001037850.1:p.Leu93Ser
ENST00000409883.7:c.278T>C MANE Select ENSP00000386264.2:p.Leu93Ser
NM_001044385.2:c.278T>C NP_001037850.1:p.Leu93Ser
NM_152388.3:c.254T>C NP_689601.2:p.Leu85Ser
NM_152388.4:c.254T>C NP_689601.2:p.Leu85Ser
ENST00000286196.9:c.199T>C ENSP00000286196.5:p.Trp67Arg
ENST00000409444.6:c.254T>C ENSP00000387203.2:p.Leu85Ser
ENST00000409883.6:c.278T>C ENSP00000386264.2:p.Leu93Ser
ENST00000432684.6:c.*77T>C ENSP00000413230.2:n.*77T>C
ENST00000444047.6:c.*88T>C ENSP00000402681.2:n.*88T>C
ENST00000471318.6:n.168T>C
ENST00000489550.5:n.381T>C
ENST00000621467.4:c.254T>C ENSP00000480508.1:p.Leu85Ser
ENST00000621467.5:c.152T>C ENSP00000480508.2:p.Leu51Ser
ENST00000686475.1:n.114T>C