Canonical Allele Identifier: CA415768349
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs1417731822
gnomAD v2: 1-1471150-G-A
gnomAD v3: 1-1535770-G-A
gnomAD v4: 1-1535770-G-A
MyVariant Identifiers: chr1:g.1471150G>A (hg19) chr1:g.1535770G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535770G>A , CM000663.2:g.1535770G>A GRCh38
NC_000001.10:g.1471150G>A , CM000663.1:g.1471150G>A GRCh37
NC_000001.9:g.1461013G>A NCBI36
NG_041807.1:g.9591C>T
NG_053035.1:g.28628G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.192C>T MANE Select ENSP00000368007.4:p.Tyr64=
ENST00000378733.8:c.192C>T ENSP00000368007.4:p.Tyr64=
ENST00000425828.1:c.192C>T ENSP00000400311.1:p.Tyr64=
NM_001114748.1:c.192C>T NP_001108220.1:p.Tyr64=
NM_001114748.2:c.192C>T MANE Select NP_001108220.1:p.Tyr64=
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