Canonical Allele Identifier: CA337866335
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535595-G-C
MyVariant Identifiers: chr1:g.1470975G>C (hg19) chr1:g.1535595G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535595G>C , CM000663.2:g.1535595G>C GRCh38
NC_000001.10:g.1470975G>C , CM000663.1:g.1470975G>C GRCh37
NC_000001.9:g.1460838G>C NCBI36
NG_041807.1:g.9766C>G
NG_053035.1:g.28453G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.367C>G MANE Select ENSP00000368007.4:p.Arg123Gly
ENST00000378733.8:c.367C>G ENSP00000368007.4:p.Arg123Gly
ENST00000425828.1:c.367C>G ENSP00000400311.1:p.Arg123Gly
NM_001114748.1:c.367C>G NP_001108220.1:p.Arg123Gly
NM_001114748.2:c.367C>G MANE Select NP_001108220.1:p.Arg123Gly
Search 100 bp 5'
Search 100 bp 3'