Canonical Allele Identifier: CA337865732
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535375-C-A
MyVariant Identifiers: chr1:g.1470755C>A (hg19) chr1:g.1535375C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535375C>A , CM000663.2:g.1535375C>A GRCh38
NC_000001.10:g.1470755C>A , CM000663.1:g.1470755C>A GRCh37
NC_000001.9:g.1460618C>A NCBI36
NG_041807.1:g.9986G>T
NG_053035.1:g.28233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.506G>T MANE Select ENSP00000368007.4:p.Ser169Ile
ENST00000378733.8:c.506G>T ENSP00000368007.4:p.Ser169Ile
ENST00000425828.1:c.506G>T ENSP00000400311.1:p.Ser169Ile
NM_001114748.1:c.506G>T NP_001108220.1:p.Ser169Ile
NM_001114748.2:c.506G>T MANE Select NP_001108220.1:p.Ser169Ile
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