Canonical Allele Identifier: CA337865788
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1208949748
gnomAD v3: 1-1535393-T-C
gnomAD v4: 1-1535393-T-C
MyVariant Identifiers: chr1:g.1470773T>C (hg19) chr1:g.1535393T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535393T>C , CM000663.2:g.1535393T>C GRCh38
NC_000001.10:g.1470773T>C , CM000663.1:g.1470773T>C GRCh37
NC_000001.9:g.1460636T>C NCBI36
NG_041807.1:g.9968A>G
NG_053035.1:g.28251T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.488A>G MANE Select ENSP00000368007.4:p.Tyr163Cys
ENST00000378733.8:c.488A>G ENSP00000368007.4:p.Tyr163Cys
ENST00000425828.1:c.488A>G ENSP00000400311.1:p.Tyr163Cys
NM_001114748.1:c.488A>G NP_001108220.1:p.Tyr163Cys
NM_001114748.2:c.488A>G MANE Select NP_001108220.1:p.Tyr163Cys
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