Canonical Allele Identifier: CA415768682
Gene: TMEM240 HGNC NCBI

Linked Data

gnomAD v4: 1-1535743-G-A
MyVariant Identifiers: chr1:g.1471123G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535743G>A , CM000663.2:g.1535743G>A GRCh38
NC_000001.10:g.1471123G>A , CM000663.1:g.1471123G>A GRCh37
NC_000001.9:g.1460986G>A NCBI36
NG_041807.1:g.9618C>T
NG_053035.1:g.28601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.219C>T MANE Select ENSP00000368007.4:p.Ala73=
ENST00000378733.8:c.219C>T ENSP00000368007.4:p.Ala73=
ENST00000425828.1:c.219C>T ENSP00000400311.1:p.Ala73=
NM_001114748.1:c.219C>T NP_001108220.1:p.Ala73=
NM_001114748.2:c.219C>T MANE Select NP_001108220.1:p.Ala73=