Canonical Allele Identifier: CA337866954

Gene: TMEM240

Linked Data

• MyVariant Identifiers: chr1:g.1471096A>C (hg19) ; chr1:g.1535716A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535716A>C , CM000663.2:g.1535716A>C	GRCh38
NC_000001.10:g.1471096A>C , CM000663.1:g.1471096A>C	GRCh37
NC_000001.9:g.1460959A>C	NCBI36
NG_041807.1:g.9645T>G
NG_053035.1:g.28574A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.246T>G MANE Select	ENSP00000368007.4:p.Ser82Arg
ENST00000378733.8:c.246T>G	ENSP00000368007.4:p.Ser82Arg
ENST00000425828.1:c.246T>G	ENSP00000400311.1:p.Ser82Arg
NM_001114748.1:c.246T>G	NP_001108220.1:p.Ser82Arg
NM_001114748.2:c.246T>G MANE Select	NP_001108220.1:p.Ser82Arg