Canonical Allele Identifier: CA221638981
Gene: CKAP5 HGNC NCBI

Linked Data

dbSNP Id: rs1023089927
gnomAD v3: 11-46827412-G-C
gnomAD v4: 11-46827412-G-C
MyVariant Identifiers: chr11:g.46848963G>C (hg19) chr11:g.46827412G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.46827412G>C , CM000673.2:g.46827412G>C GRCh38
NC_000011.9:g.46848963G>C , CM000673.1:g.46848963G>C GRCh37
NC_000011.8:g.46805539G>C NCBI36
NG_029924.1:g.23897C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000529230.6:c.-37-6144C>G MANE Select ENSP00000432768.1:n.-37-6144C>G
ENST00000312055.9:c.-37-6144C>G ENSP00000310227.5:n.-37-6144C>G
ENST00000525248.1:n.78-6164C>G
ENST00000529230.5:c.-37-6144C>G ENSP00000432768.1:n.-37-6144C>G
NM_001008938.3:c.-37-6144C>G NP_001008938.1:n.-37-6144C>G
NM_014756.3:c.-37-6144C>G NP_055571.2:n.-37-6144C>G
NM_001008938.4:c.-37-6144C>G MANE Select NP_001008938.1:n.-37-6144C>G
NM_014756.4:c.-37-6144C>G NP_055571.2:n.-37-6144C>G
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