Canonical Allele Identifier: CA337865846
Gene: TMEM240 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.1470786T>G (hg19) chr1:g.1535406T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535406T>G , CM000663.2:g.1535406T>G GRCh38
NC_000001.10:g.1470786T>G , CM000663.1:g.1470786T>G GRCh37
NC_000001.9:g.1460649T>G NCBI36
NG_041807.1:g.9955A>C
NG_053035.1:g.28264T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.475A>C MANE Select ENSP00000368007.4:p.Lys159Gln
ENST00000378733.8:c.475A>C ENSP00000368007.4:p.Lys159Gln
ENST00000425828.1:c.475A>C ENSP00000400311.1:p.Lys159Gln
NM_001114748.1:c.475A>C NP_001108220.1:p.Lys159Gln
NM_001114748.2:c.475A>C MANE Select NP_001108220.1:p.Lys159Gln
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