Canonical Allele Identifier: CA337866304
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535589-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535589C>A , CM000663.2:g.1535589C>A GRCh38
NC_000001.10:g.1470969C>A , CM000663.1:g.1470969C>A GRCh37
NC_000001.9:g.1460832C>A NCBI36
NG_041807.1:g.9772G>T
NG_053035.1:g.28447C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.373G>T MANE Select ENSP00000368007.4:p.Asp125Tyr
ENST00000378733.8:c.373G>T ENSP00000368007.4:p.Asp125Tyr
ENST00000425828.1:c.373G>T ENSP00000400311.1:p.Asp125Tyr
NM_001114748.1:c.373G>T NP_001108220.1:p.Asp125Tyr
NM_001114748.2:c.373G>T MANE Select NP_001108220.1:p.Asp125Tyr