Canonical Allele Identifier: CA12575875
Gene: CDK5 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.151053893C>T
GRCh37 chr7:g.150750980C>T
gnomAD v2:
7:150750980 C / T
gnomAD v3:
7:151053893 C / T
gnomAD v4:
chr7-151053893-C-T
Joint Max Group AF 0.23938649 (SAS)
Genomes Max Group AF 0.23169584 (SAS)
Exomes Max Group AF 0.23919407 (SAS)
dbSNP:
9278
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151053893C>T , CM000669.2:g.151053893C>T GRCh38
NC_000007.13:g.150750980C>T , CM000669.1:g.150750980C>T GRCh37
NC_000007.12:g.150381913C>T NCBI36
NG_042167.1:g.9073G>A
NG_051947.1:g.694C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000485972.6:c.*116G>A MANE Select ENSP00000419782.1:n.*116G>A
ENST00000485972.5:c.*116G>A ENSP00000419782.1:n.*116G>A
NM_001164410.2:c.*116G>A NP_001157882.1:n.*116G>A
NM_004935.3:c.*116G>A NP_004926.1:n.*116G>A
NM_004935.4:c.*116G>A MANE Select NP_004926.1:n.*116G>A
NM_001164410.3:c.*116G>A NP_001157882.1:n.*116G>A
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