Canonical Allele Identifier: CA12525514
Gene: CDK5 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151056377A>G , CM000669.2:g.151056377A>G GRCh38
NC_000007.13:g.150753464A>G , CM000669.1:g.150753464A>G GRCh37
NC_000007.12:g.150384397A>G NCBI36
NG_042167.1:g.6589T>C
NG_051947.1:g.3178A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000485972.6:c.312+203T>C MANE Select ENSP00000419782.1:n.312+203T>C
ENST00000297518.4:c.312+203T>C ENSP00000297518.4:n.312+203T>C
ENST00000485972.5:c.312+203T>C ENSP00000419782.1:n.312+203T>C
ENST00000487703.5:n.676+203T>C
NM_001164410.2:c.312+203T>C NP_001157882.1:n.312+203T>C
NM_004935.3:c.312+203T>C NP_004926.1:n.312+203T>C
NM_004935.4:c.312+203T>C MANE Select NP_004926.1:n.312+203T>C
NM_001164410.3:c.312+203T>C NP_001157882.1:n.312+203T>C