Canonical Allele Identifier: CA526632
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs747773729
ExAC: 1:1470805 G / T
gnomAD v2: 1-1470805-G-T
gnomAD v3: 1-1535425-G-T
gnomAD v4: 1-1535425-G-T
MyVariant Identifiers: chr1:g.1470805G>T (hg19) chr1:g.1535425G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535425G>T , CM000663.2:g.1535425G>T GRCh38
NC_000001.10:g.1470805G>T , CM000663.1:g.1470805G>T GRCh37
NC_000001.9:g.1460668G>T NCBI36
NG_041807.1:g.9936C>A
NG_053035.1:g.28283G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.456C>A MANE Select ENSP00000368007.4:p.Ala152=
ENST00000378733.8:c.456C>A ENSP00000368007.4:p.Ala152=
ENST00000425828.1:c.456C>A ENSP00000400311.1:p.Ala152=
NM_001114748.1:c.456C>A NP_001108220.1:p.Ala152=
NM_001114748.2:c.456C>A MANE Select NP_001108220.1:p.Ala152=
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