Canonical Allele Identifier: CA337866362

Gene: TMEM240

Linked Data

• gnomAD v4: 1-1535603-G-T
• MyVariant Identifiers: chr1:g.1470983G>T (hg19) ; chr1:g.1535603G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535603G>T , CM000663.2:g.1535603G>T	GRCh38
NC_000001.10:g.1470983G>T , CM000663.1:g.1470983G>T	GRCh37
NC_000001.9:g.1460846G>T	NCBI36
NG_041807.1:g.9758C>A
NG_053035.1:g.28461G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.359C>A MANE Select	ENSP00000368007.4:p.Ala120Asp
ENST00000378733.8:c.359C>A	ENSP00000368007.4:p.Ala120Asp
ENST00000425828.1:c.359C>A	ENSP00000400311.1:p.Ala120Asp
NM_001114748.1:c.359C>A	NP_001108220.1:p.Ala120Asp
NM_001114748.2:c.359C>A MANE Select	NP_001108220.1:p.Ala120Asp