Canonical Allele Identifier: CA557394792
Gene: SLC25A4 HGNC NCBI

Linked Data

dbSNP Id: rs111595982
gnomAD v2: 4-186065817-C-CAA
gnomAD v3: 4-185144663-C-CAA
gnomAD v4: 4-185144663-C-CAA
MyVariant Identifiers: chr4:g.186065818_186065819insAA (hg19) chr4:g.186065817_186065818insAA (hg19) chr4:g.185144664_185144665insAA (hg38) chr4:g.185144663_185144664insAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.185144672_185144673dup , CM000666.2:g.185144672_185144673dup GRCh38
NC_000004.11:g.186065826_186065827dup , CM000666.1:g.186065826_186065827dup GRCh37
NC_000004.10:g.186302820_186302821dup NCBI36
NG_013001.1:g.6410_6411dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000281456.11:c.112-92_112-91dup MANE Select ENSP00000281456.5:n.112-92_112-91dup
ENST00000281456.10:c.112-92_112-91dup ENSP00000281456.5:n.112-92_112-91dup
ENST00000491736.1:c.112-92_112-91dup ENSP00000476711.1:n.112-92_112-91dup
NM_001151.3:c.112-92_112-91dup NP_001142.2:n.112-92_112-91dup
NM_001151.4:c.112-92_112-91dup MANE Select NP_001142.2:n.112-92_112-91dup
Search 100 bp 5'
Search 100 bp 3'