Canonical Allele Identifier: CA112008545
Gene: SLC25A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 901524
ClinVar RCV Id: RCV001147467 RCV002497566
dbSNP Id: rs901529350
gnomAD v2: 4-186069119-G-A
gnomAD v3: 4-185147965-G-A
gnomAD v4: 4-185147965-G-A
MyVariant Identifiers: chr4:g.186069119G>A (hg19) chr4:g.185147965G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185147965G>A , CM000666.2:g.185147965G>A GRCh38
NC_000004.11:g.186069119G>A , CM000666.1:g.186069119G>A GRCh37
NC_000004.10:g.186306113G>A NCBI36
NG_013001.1:g.9703G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.*994G>A MANE Select ENSP00000281456.5:n.*994G>A
ENST00000281456.10:c.*994G>A ENSP00000281456.5:n.*994G>A
NM_001151.3:c.*994G>A NP_001142.2:n.*994G>A
NM_001151.4:c.*994G>A MANE Select NP_001142.2:n.*994G>A
Search 100 bp 5'
Search 100 bp 3'