Canonical Allele Identifier: CA2011449967
Gene: KDM5A HGNC NCBI

Linked Data

dbSNP Id: rs1943595479

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.312168T>A , CM000674.2:g.312168T>A GRCh38
NC_000012.11:g.421334T>A , CM000674.1:g.421334T>A GRCh37
NC_000012.10:g.291595T>A NCBI36
NG_046993.1:g.82288A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000399788.7:c.3036+888A>T MANE Select ENSP00000382688.2:n.3036+888A>T
ENST00000382815.8:c.3036+888A>T ENSP00000372265.5:n.3036+888A>T
ENST00000399788.6:c.3036+888A>T ENSP00000382688.2:n.3036+888A>T
ENST00000544760.1:c.1893+888A>T ENSP00000440622.1:n.1893+888A>T
NM_001042603.2:c.3036+888A>T NP_001036068.1:n.3036+888A>T
NM_001042603.3:c.3036+888A>T MANE Select NP_001036068.1:n.3036+888A>T