Canonical Allele Identifier: CA4570414

Gene: CDK5

Linked Data

• ClinVar Variation Id: 434643
• ClinVar RCV Id: RCV000500467 ; RCV002524163
• dbSNP Id: rs76486938
• ExAC: 7:150751561 G / A
• gnomAD v2: 7-150751561-G-A
• gnomAD v3: 7-151054474-G-A
• gnomAD v4: 7-151054474-G-A
• MyVariant Identifiers: chr7:g.150751561G>A (hg19) ; chr7:g.151054474G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151054474G>A , CM000669.2:g.151054474G>A	GRCh38
NC_000007.13:g.150751561G>A , CM000669.1:g.150751561G>A	GRCh37
NC_000007.12:g.150382494G>A	NCBI36
NG_042167.1:g.8492C>T
NG_051947.1:g.1275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000485972.6:c.651-9C>T MANE Select	ENSP00000419782.1:n.651-9C>T
ENST00000297518.4:c.555-9C>T	ENSP00000297518.4:n.555-9C>T
ENST00000485972.5:c.651-9C>T	ENSP00000419782.1:n.651-9C>T
NM_001164410.2:c.555-9C>T	NP_001157882.1:n.555-9C>T
NM_004935.3:c.651-9C>T	NP_004926.1:n.651-9C>T
NM_004935.4:c.651-9C>T MANE Select	NP_004926.1:n.651-9C>T
NM_001164410.3:c.555-9C>T	NP_001157882.1:n.555-9C>T