Canonical Allele Identifier: CA12384793
Gene: CDKAL1 HGNC NCBI
dbSNP:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20567310G>A , CM000668.2:g.20567310G>A GRCh38
NC_000006.11:g.20567541G>A , CM000668.1:g.20567541G>A GRCh37
NC_000006.10:g.20675520G>A NCBI36
NG_021195.1:g.37854G>A
NG_021195.2:g.37854G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274695.8:c.286+18605G>A MANE Select ENSP00000274695.4:n.286+18605G>A
ENST00000378610.1:c.286+18605G>A ENSP00000367873.1:n.286+18605G>A
NM_017774.3:c.286+18605G>A MANE Select NP_060244.2:n.286+18605G>A
XM_006715128.2:c.286+18605G>A XP_006715191.1:n.286+18605G>A
XM_011514718.1:c.286+18605G>A XP_011513020.1:n.286+18605G>A
XM_011514719.1:c.286+18605G>A XP_011513021.1:n.286+18605G>A
XR_926265.1:n.453+18605G>A
XR_926266.1:n.566+18605G>A
XR_926267.1:n.453+18605G>A
XM_011514719.2:c.286+18605G>A XP_011513021.1:n.286+18605G>A
XM_017010986.1:c.286+18605G>A XP_016866475.1:n.286+18605G>A
XM_017010987.1:c.-469+18605G>A XP_016866476.1:n.-469+18605G>A
XM_024446481.1:c.286+18605G>A XP_024302249.1:n.286+18605G>A
XR_001743495.2:n.458+18605G>A
XR_001743496.2:n.853+18605G>A
XR_001743500.1:n.453+18605G>A
XR_001743501.1:n.453+18605G>A
XR_926265.2:n.453+18605G>A
XR_926266.2:n.566+18605G>A
XR_926267.2:n.453+18605G>A