Canonical Allele Identifier: CA231385822
Gene: KDM5A HGNC NCBI

Linked Data

dbSNP Id: rs562378202
gnomAD v2: 12-421412-G-A
gnomAD v3: 12-312246-G-A
gnomAD v4: 12-312246-G-A
MyVariant Identifiers: chr12:g.421412G>A (hg19) chr12:g.312246G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.312246G>A , CM000674.2:g.312246G>A GRCh38
NC_000012.11:g.421412G>A , CM000674.1:g.421412G>A GRCh37
NC_000012.10:g.291673G>A NCBI36
NG_046993.1:g.82210C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000399788.7:c.3036+810C>T MANE Select ENSP00000382688.2:n.3036+810C>T
ENST00000382815.8:c.3036+810C>T ENSP00000372265.5:n.3036+810C>T
ENST00000399788.6:c.3036+810C>T ENSP00000382688.2:n.3036+810C>T
ENST00000544760.1:c.1893+810C>T ENSP00000440622.1:n.1893+810C>T
NM_001042603.2:c.3036+810C>T NP_001036068.1:n.3036+810C>T
NM_001042603.3:c.3036+810C>T MANE Select NP_001036068.1:n.3036+810C>T
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