Canonical Allele Identifier: CA687252009
Gene: KDM5A HGNC NCBI

Linked Data

dbSNP Id: rs1299053126
gnomAD v3: 12-312052-A-G
gnomAD v4: 12-312052-A-G
MyVariant Identifiers: chr12:g.421218A>G (hg19) chr12:g.312052A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.312052A>G , CM000674.2:g.312052A>G GRCh38
NC_000012.11:g.421218A>G , CM000674.1:g.421218A>G GRCh37
NC_000012.10:g.291479A>G NCBI36
NG_046993.1:g.82404T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000399788.7:c.3037-988T>C MANE Select ENSP00000382688.2:n.3037-988T>C
ENST00000382815.8:c.3037-988T>C ENSP00000372265.5:n.3037-988T>C
ENST00000399788.6:c.3037-988T>C ENSP00000382688.2:n.3037-988T>C
ENST00000544760.1:c.1894-988T>C ENSP00000440622.1:n.1894-988T>C
NM_001042603.2:c.3037-988T>C NP_001036068.1:n.3037-988T>C
NM_001042603.3:c.3037-988T>C MANE Select NP_001036068.1:n.3037-988T>C
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