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ClinGen Allele Registry
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Canonical Allele Identifier:
CA144815
Community Standard Title: NM_001151.4(SLC25A4):c.111+1G>A
Gene: SLC25A4
HGNC
NCBI
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
NM_001151.4:c.111+1G>A
MANE Select
NP_001142.2:n.111+1G>A
ENST00000281456.11:c.111+1G>A
MANE Select
ENSP00000281456.5:n.111+1G>A
NM_001151.3:c.111+1G>A
NP_001142.2: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
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