Canonical Allele Identifier: CA2725571285

Gene: KDM5A

Linked Data

• dbSNP Id: rs2137395864

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.312131T>G , CM000674.2:g.312131T>G	GRCh38
NC_000012.11:g.421297T>G , CM000674.1:g.421297T>G	GRCh37
NC_000012.10:g.291558T>G	NCBI36
NG_046993.1:g.82325A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399788.7:c.3036+925A>C MANE Select	ENSP00000382688.2:n.3036+925A>C
ENST00000382815.8:c.3036+925A>C	ENSP00000372265.5:n.3036+925A>C
ENST00000399788.6:c.3036+925A>C	ENSP00000382688.2:n.3036+925A>C
ENST00000544760.1:c.1893+925A>C	ENSP00000440622.1:n.1893+925A>C
NM_001042603.2:c.3036+925A>C	NP_001036068.1:n.3036+925A>C
NM_001042603.3:c.3036+925A>C MANE Select	NP_001036068.1:n.3036+925A>C