Canonical Allele Identifier: CA337865725
Gene: TMEM240 HGNC NCBI

Linked Data

ClinVar Variation Id: 2855986
ClinVar RCV Id: RCV003701683
MyVariant Identifiers: chr1:g.1470753G>A (hg19) chr1:g.1535373G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535373G>A , CM000663.2:g.1535373G>A GRCh38
NC_000001.10:g.1470753G>A , CM000663.1:g.1470753G>A GRCh37
NC_000001.9:g.1460616G>A NCBI36
NG_041807.1:g.9988C>T
NG_053035.1:g.28231G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.508C>T MANE Select ENSP00000368007.4:p.Pro170Ser
ENST00000378733.8:c.508C>T ENSP00000368007.4:p.Pro170Ser
ENST00000425828.1:c.508C>T ENSP00000400311.1:p.Pro170Ser
NM_001114748.1:c.508C>T NP_001108220.1:p.Pro170Ser
NM_001114748.2:c.508C>T MANE Select NP_001108220.1:p.Pro170Ser
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