Canonical Allele Identifier: CA10602460
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 253037
ClinVar RCV Id: RCV000258873 RCV000479591 RCV000491010 RCV000624243
dbSNP Id: rs886041081
COSMIC: COSM1053744
MyVariant Identifiers: chr4:g.186066045G>A (hg19) chr4:g.185144891G>A (hg38)
PubMed: PMID:27693233
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144891G>A , CM000666.2:g.185144891G>A GRCh38
NC_000004.11:g.186066045G>A , CM000666.1:g.186066045G>A GRCh37
NC_000004.10:g.186303039G>A NCBI36
NG_013001.1:g.6629G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000281456.11:c.239G>A MANE Select ENSP00000281456.5:p.Arg80His
ENST00000281456.10:c.239G>A ENSP00000281456.5:p.Arg80His
ENST00000491736.1:c.239G>A ENSP00000476711.1:p.Arg80His
NM_001151.3:c.239G>A NP_001142.2:p.Arg80His
NM_001151.4:c.239G>A MANE Select NP_001142.2:p.Arg80His
Search 100 bp 5'
Search 100 bp 3'