Canonical Allele Identifier: CA10602682
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 268149
ClinVar RCV Id: RCV000258875
dbSNP Id: rs886041080

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144768_185144789del , CM000666.2:g.185144768_185144789del GRCh38
NC_000004.11:g.186065922_186065943del , CM000666.1:g.186065922_186065943del GRCh37
NC_000004.10:g.186302916_186302937del NCBI36
NG_013001.1:g.6506_6527del

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.116_137del MANE Select ENSP00000281456.5:p.Gln39LeufsTer14
ENST00000281456.10:c.116_137del ENSP00000281456.5:p.Gln39LeufsTer14
ENST00000491736.1:c.116_137del ENSP00000476711.1:p.Gln39LeufsTer14
NM_001151.3:c.116_137del NP_001142.2:p.Gln39LeufsTer14
NM_001151.4:c.116_137del MANE Select NP_001142.2:p.Gln39LeufsTer14