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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA144815
Gene: SLC25A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66011
ClinVar RCV Id:
RCV000056253
dbSNP Id:
rs398122942
MyVariant Identifiers:
chr4:g.186064638G>A (hg19)
chr4:g.185143484G>A (hg38)
PubMed:
PMID:22187496
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.185143484G>A , CM000666.2:g.185143484G>A
GRCh38
NC_000004.11:g.186064638G>A , CM000666.1:g.186064638G>A
GRCh37
NC_000004.10:g.186301632G>A
NCBI36
NG_013001.1:g.5222G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000281456.11:c.111+1G>A
MANE Select
ENSP00000281456.5:n.111+1G>A
ENST00000281456.10:c.111+1G>A
ENSP00000281456.5:n.111+1G>A
ENST00000491736.1:c.111+1G>A
ENSP00000476711.1:n.111+1G>A
NM_001151.3:c.111+1G>A
NP_001142.2:n.111+1G>A
NM_001151.4:c.111+1G>A
MANE Select
NP_001142.2:n.111+1G>A
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