Canonical Allele Identifier: CA602727333
Gene: KDM5A HGNC NCBI

Linked Data

dbSNP Id: rs1230085510
gnomAD v2: 12-421220-C-T
gnomAD v3: 12-312054-C-T
gnomAD v4: 12-312054-C-T
MyVariant Identifiers: chr12:g.421220C>T (hg19) chr12:g.312054C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.312054C>T , CM000674.2:g.312054C>T GRCh38
NC_000012.11:g.421220C>T , CM000674.1:g.421220C>T GRCh37
NC_000012.10:g.291481C>T NCBI36
NG_046993.1:g.82402G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399788.7:c.3037-990G>A MANE Select ENSP00000382688.2:n.3037-990G>A
ENST00000382815.8:c.3037-990G>A ENSP00000372265.5:n.3037-990G>A
ENST00000399788.6:c.3037-990G>A ENSP00000382688.2:n.3037-990G>A
ENST00000544760.1:c.1894-990G>A ENSP00000440622.1:n.1894-990G>A
NM_001042603.2:c.3037-990G>A NP_001036068.1:n.3037-990G>A
NM_001042603.3:c.3037-990G>A MANE Select NP_001036068.1:n.3037-990G>A
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