Canonical Allele Identifier: CA239173
Gene: TMEM237 HGNC NCBI

Linked Data

ClinVar Variation Id: 193617
dbSNP Id: rs202130417

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201628148T>C , CM000664.2:g.201628148T>C GRCh38
NC_000002.11:g.202492871T>C , CM000664.1:g.202492871T>C GRCh37
NC_000002.10:g.202201116T>C NCBI36
NG_032049.1:g.20382A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000471318.6:n.761A>G
ENST00000621467.5:c.745A>G ENSP00000480508.2:p.Ile249Val
ENST00000686475.1:n.811A>G
ENST00000409883.7:c.871A>G MANE Select ENSP00000386264.2:p.Ile291Val
ENST00000286196.9:c.*435A>G ENSP00000286196.5:n.*435A>G
ENST00000409444.6:c.847A>G ENSP00000387203.2:p.Ile283Val
ENST00000409883.6:c.871A>G ENSP00000386264.2:p.Ile291Val
ENST00000466641.5:n.569A>G
ENST00000466839.5:n.739A>G
ENST00000471318.5:n.193A>G
ENST00000621467.4:c.847A>G ENSP00000480508.1:p.Ile283Val
NM_001044385.2:c.871A>G NP_001037850.1:p.Ile291Val
NM_152388.3:c.847A>G NP_689601.2:p.Ile283Val
NM_001044385.3:c.871A>G MANE Select NP_001037850.1:p.Ile291Val
NM_152388.4:c.847A>G NP_689601.2:p.Ile283Val