Canonical Allele Identifier: CA415388177
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535479-C-A
MyVariant Identifiers: chr1:g.1470859C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535479C>A , CM000663.2:g.1535479C>A GRCh38
NC_000001.10:g.1470859C>A , CM000663.1:g.1470859C>A GRCh37
NC_000001.9:g.1460722C>A NCBI36
NG_041807.1:g.9882G>T
NG_053035.1:g.28337C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.402G>T MANE Select ENSP00000368007.4:p.Leu134=
ENST00000378733.8:c.402G>T ENSP00000368007.4:p.Leu134=
ENST00000425828.1:c.402G>T ENSP00000400311.1:p.Leu134=
NM_001114748.1:c.402G>T NP_001108220.1:p.Leu134=
NM_001114748.2:c.402G>T MANE Select NP_001108220.1:p.Leu134=
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