Canonical Allele Identifier: CA231385760
Gene: KDM5A HGNC NCBI

Linked Data

dbSNP Id: rs182805555
gnomAD v2: 12-421332-G-T
gnomAD v3: 12-312166-G-T
gnomAD v4: 12-312166-G-T
MyVariant Identifiers: chr12:g.421332G>T (hg19) chr12:g.312166G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.312166G>T , CM000674.2:g.312166G>T GRCh38
NC_000012.11:g.421332G>T , CM000674.1:g.421332G>T GRCh37
NC_000012.10:g.291593G>T NCBI36
NG_046993.1:g.82290C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399788.7:c.3036+890C>A MANE Select ENSP00000382688.2:n.3036+890C>A
ENST00000382815.8:c.3036+890C>A ENSP00000372265.5:n.3036+890C>A
ENST00000399788.6:c.3036+890C>A ENSP00000382688.2:n.3036+890C>A
ENST00000544760.1:c.1893+890C>A ENSP00000440622.1:n.1893+890C>A
NM_001042603.2:c.3036+890C>A NP_001036068.1:n.3036+890C>A
NM_001042603.3:c.3036+890C>A MANE Select NP_001036068.1:n.3036+890C>A
Search 100 bp 5'
Search 100 bp 3'