Canonical Allele Identifier: CA687252120
Gene: KDM5A HGNC NCBI

Linked Data

dbSNP Id: rs1309304982
gnomAD v3: 12-312177-T-C
gnomAD v4: 12-312177-T-C
MyVariant Identifiers: chr12:g.421343T>C (hg19) chr12:g.312177T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.312177T>C , CM000674.2:g.312177T>C GRCh38
NC_000012.11:g.421343T>C , CM000674.1:g.421343T>C GRCh37
NC_000012.10:g.291604T>C NCBI36
NG_046993.1:g.82279A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000399788.7:c.3036+879A>G MANE Select ENSP00000382688.2:n.3036+879A>G
ENST00000382815.8:c.3036+879A>G ENSP00000372265.5:n.3036+879A>G
ENST00000399788.6:c.3036+879A>G ENSP00000382688.2:n.3036+879A>G
ENST00000544760.1:c.1893+879A>G ENSP00000440622.1:n.1893+879A>G
NM_001042603.2:c.3036+879A>G NP_001036068.1:n.3036+879A>G
NM_001042603.3:c.3036+879A>G MANE Select NP_001036068.1:n.3036+879A>G
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