Canonical Allele Identifier: CA2537086213

Gene: KDM5A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.312352A>C , CM000674.2:g.312352A>C	GRCh38
NC_000012.11:g.421518A>C , CM000674.1:g.421518A>C	GRCh37
NC_000012.10:g.291779A>C	NCBI36
NG_046993.1:g.82104T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399788.7:c.3036+704T>G MANE Select	ENSP00000382688.2:n.3036+704T>G
ENST00000382815.8:c.3036+704T>G	ENSP00000372265.5:n.3036+704T>G
ENST00000399788.6:c.3036+704T>G	ENSP00000382688.2:n.3036+704T>G
ENST00000544760.1:c.1893+704T>G	ENSP00000440622.1:n.1893+704T>G
NM_001042603.2:c.3036+704T>G	NP_001036068.1:n.3036+704T>G
NM_001042603.3:c.3036+704T>G MANE Select	NP_001036068.1:n.3036+704T>G