Canonical Allele Identifier: CA16796932
Gene: TMEM240 HGNC NCBI

Linked Data

dbSNP Id: rs967093969
gnomAD v4: 1-1535714-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1535714A>G , CM000663.2:g.1535714A>G GRCh38
NC_000001.10:g.1471094A>G , CM000663.1:g.1471094A>G GRCh37
NC_000001.9:g.1460957A>G NCBI36
NG_041807.1:g.9647T>C
NG_053035.1:g.28572A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378733.9:c.248T>C MANE Select ENSP00000368007.4:p.Val83Ala
ENST00000378733.8:c.248T>C ENSP00000368007.4:p.Val83Ala
ENST00000425828.1:c.248T>C ENSP00000400311.1:p.Val83Ala
NM_001114748.1:c.248T>C NP_001108220.1:p.Val83Ala
NM_001114748.2:c.248T>C MANE Select NP_001108220.1:p.Val83Ala