Canonical Allele Identifier: CA2011450006
Gene: KDM5A HGNC NCBI

Linked Data

dbSNP Id: rs1943596450
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.312247T>A , CM000674.2:g.312247T>A GRCh38
NC_000012.11:g.421413T>A , CM000674.1:g.421413T>A GRCh37
NC_000012.10:g.291674T>A NCBI36
NG_046993.1:g.82209A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399788.7:c.3036+809A>T MANE Select ENSP00000382688.2:n.3036+809A>T
ENST00000382815.8:c.3036+809A>T ENSP00000372265.5:n.3036+809A>T
ENST00000399788.6:c.3036+809A>T ENSP00000382688.2:n.3036+809A>T
ENST00000544760.1:c.1893+809A>T ENSP00000440622.1:n.1893+809A>T
NM_001042603.2:c.3036+809A>T NP_001036068.1:n.3036+809A>T
NM_001042603.3:c.3036+809A>T MANE Select NP_001036068.1:n.3036+809A>T
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