Canonical Allele Identifier: CA337866336
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535595-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535595G>T , CM000663.2:g.1535595G>T GRCh38
NC_000001.10:g.1470975G>T , CM000663.1:g.1470975G>T GRCh37
NC_000001.9:g.1460838G>T NCBI36
NG_041807.1:g.9766C>A
NG_053035.1:g.28453G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.367C>A MANE Select ENSP00000368007.4:p.Arg123Ser
ENST00000378733.8:c.367C>A ENSP00000368007.4:p.Arg123Ser
ENST00000425828.1:c.367C>A ENSP00000400311.1:p.Arg123Ser
NM_001114748.1:c.367C>A NP_001108220.1:p.Arg123Ser
NM_001114748.2:c.367C>A MANE Select NP_001108220.1:p.Arg123Ser