Canonical Allele Identifier: CA337867347

Gene: TMEM240

Linked Data

• MyVariant Identifiers: chr1:g.1471175T>A (hg19) ; chr1:g.1535795T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535795T>A , CM000663.2:g.1535795T>A	GRCh38
NC_000001.10:g.1471175T>A , CM000663.1:g.1471175T>A	GRCh37
NC_000001.9:g.1461038T>A	NCBI36
NG_041807.1:g.9566A>T
NG_053035.1:g.28653T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.167A>T MANE Select	ENSP00000368007.4:p.His56Leu
ENST00000378733.8:c.167A>T	ENSP00000368007.4:p.His56Leu
ENST00000425828.1:c.167A>T	ENSP00000400311.1:p.His56Leu
NM_001114748.1:c.167A>T	NP_001108220.1:p.His56Leu
NM_001114748.2:c.167A>T MANE Select	NP_001108220.1:p.His56Leu