Canonical Allele Identifier: CA16042311
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 372833
dbSNP Id: rs1057518011

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535766C>T , CM000663.2:g.1535766C>T GRCh38
NC_000001.10:g.1471146C>T , CM000663.1:g.1471146C>T GRCh37
NC_000001.9:g.1461009C>T NCBI36
NG_041807.1:g.9595G>A
NG_053035.1:g.28624C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.196G>A MANE Select ENSP00000368007.4:p.Gly66Arg
ENST00000378733.8:c.196G>A ENSP00000368007.4:p.Gly66Arg
ENST00000425828.1:c.196G>A ENSP00000400311.1:p.Gly66Arg
NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg
NM_001114748.2:c.196G>A MANE Select NP_001108220.1:p.Gly66Arg