Canonical Allele Identifier: CA337865800
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535396-A-G
MyVariant Identifiers: chr1:g.1470776A>G (hg19) chr1:g.1535396A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535396A>G , CM000663.2:g.1535396A>G GRCh38
NC_000001.10:g.1470776A>G , CM000663.1:g.1470776A>G GRCh37
NC_000001.9:g.1460639A>G NCBI36
NG_041807.1:g.9965T>C
NG_053035.1:g.28254A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.485T>C MANE Select ENSP00000368007.4:p.Leu162Pro
ENST00000378733.8:c.485T>C ENSP00000368007.4:p.Leu162Pro
ENST00000425828.1:c.485T>C ENSP00000400311.1:p.Leu162Pro
NM_001114748.1:c.485T>C NP_001108220.1:p.Leu162Pro
NM_001114748.2:c.485T>C MANE Select NP_001108220.1:p.Leu162Pro
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