Canonical Allele Identifier: CA4570420
Gene: CDK5 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.151054979T>C
GRCh37 chr7:g.150752066T>C
gnomAD v2:
7:150752066 T / C
gnomAD v3:
7:151054979 T / C
gnomAD v4:
chr7-151054979-T-C
Joint Max Group AF 0.96235927 (EAS)
Genomes Max Group AF 0.93360089 (EAS)
Exomes Max Group AF 0.96371557 (EAS)
dbSNP:
891507
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151054979T>C , CM000669.2:g.151054979T>C GRCh38
NC_000007.13:g.150752066T>C , CM000669.1:g.150752066T>C GRCh37
NC_000007.12:g.150382999T>C NCBI36
NG_042167.1:g.7987A>G
NG_051947.1:g.1780T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000485972.6:c.650+48A>G MANE Select ENSP00000419782.1:n.650+48A>G
ENST00000297518.4:c.554+48A>G ENSP00000297518.4:n.554+48A>G
ENST00000485972.5:c.650+48A>G ENSP00000419782.1:n.650+48A>G
NM_001164410.2:c.554+48A>G NP_001157882.1:n.554+48A>G
NM_004935.3:c.650+48A>G NP_004926.1:n.650+48A>G
NM_004935.4:c.650+48A>G MANE Select NP_004926.1:n.650+48A>G
NM_001164410.3:c.554+48A>G NP_001157882.1:n.554+48A>G
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