Canonical Allele Identifier: CA242954574
Gene: ANKS1B HGNC NCBI

Linked Data

dbSNP Id: rs7968606
gnomAD v2: 12-99816842-C-T
gnomAD v3: 12-99423064-C-T
gnomAD v4: 12-99423064-C-T
MyVariant Identifiers: chr12:g.99816842C>T (hg19) chr12:g.99423064C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.99423064C>T , CM000674.2:g.99423064C>T GRCh38
NC_000012.11:g.99816842C>T , CM000674.1:g.99816842C>T GRCh37
NC_000012.10:g.98340973C>T NCBI36
NG_029860.1:g.566591G>A
NG_029860.2:g.566591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000683438.2:c.1575+20609G>A MANE Select ENSP00000508105.1:n.1575+20609G>A
ENST00000547010.5:c.315+20609G>A ENSP00000448512.1:n.315+20609G>A
ENST00000547776.6:c.1575+20609G>A ENSP00000449629.2:n.1575+20609G>A
ENST00000549866.5:c.1473+20609G>A ENSP00000449894.1:n.1473+20609G>A
NM_152788.4:c.1575+20609G>A NP_690001.3:n.1575+20609G>A
XM_005269028.3:c.1575+20609G>A XP_005269085.1:n.1575+20609G>A
XM_005269029.3:c.1575+20609G>A XP_005269086.1:n.1575+20609G>A
XM_006719504.2:c.1575+20609G>A XP_006719567.1:n.1575+20609G>A
XM_006719505.2:c.1575+20609G>A XP_006719568.1:n.1575+20609G>A
XM_006719506.2:c.1575+20609G>A XP_006719569.1:n.1575+20609G>A
XM_006719507.2:c.1575+20609G>A XP_006719570.1:n.1575+20609G>A
XM_006719508.2:c.1575+20609G>A XP_006719571.1:n.1575+20609G>A
XM_006719509.2:c.1575+20609G>A XP_006719572.1:n.1575+20609G>A
XM_006719510.2:c.1575+20609G>A XP_006719573.1:n.1575+20609G>A
XM_006719511.2:c.1575+20609G>A XP_006719574.1:n.1575+20609G>A
XM_006719512.2:c.1575+20609G>A XP_006719575.1:n.1575+20609G>A
XM_006719513.2:c.1575+20609G>A XP_006719576.1:n.1575+20609G>A
XM_006719514.2:c.1575+20609G>A XP_006719577.1:n.1575+20609G>A
XM_011538570.1:c.1575+20609G>A XP_011536872.1:n.1575+20609G>A
XM_011538571.1:c.1575+20609G>A XP_011536873.1:n.1575+20609G>A
XM_011538572.1:c.1434+20609G>A XP_011536874.1:n.1434+20609G>A
XR_944628.1:n.2065+20609G>A
XR_944629.1:n.2065+20609G>A
NM_001352185.1:c.1575+20609G>A NP_001339114.1:n.1575+20609G>A
NM_001352186.1:c.1575+20609G>A NP_001339115.1:n.1575+20609G>A
NM_001352187.1:c.1575+20609G>A NP_001339116.1:n.1575+20609G>A
NM_001352188.1:c.1575+20609G>A NP_001339117.1:n.1575+20609G>A
XM_005269029.5:c.1575+20609G>A XP_005269086.1:n.1575+20609G>A
XM_006719504.4:c.1575+20609G>A XP_006719567.1:n.1575+20609G>A
XM_006719505.4:c.1575+20609G>A XP_006719568.1:n.1575+20609G>A
XM_006719507.4:c.1575+20609G>A XP_006719570.1:n.1575+20609G>A
XM_006719508.4:c.1575+20609G>A XP_006719571.1:n.1575+20609G>A
XM_006719510.4:c.1575+20609G>A XP_006719573.1:n.1575+20609G>A
XM_006719512.4:c.1575+20609G>A XP_006719575.1:n.1575+20609G>A
XM_006719513.4:c.1575+20609G>A XP_006719576.1:n.1575+20609G>A
XM_006719514.4:c.1575+20609G>A XP_006719577.1:n.1575+20609G>A
XM_011538571.3:c.1575+20609G>A XP_011536873.1:n.1575+20609G>A
XM_017019652.2:c.1575+20609G>A XP_016875141.1:n.1575+20609G>A
XM_017019653.2:c.1575+20609G>A XP_016875142.1:n.1575+20609G>A
XM_017019654.2:c.1575+20609G>A XP_016875143.1:n.1575+20609G>A
XM_017019655.2:c.1575+20609G>A XP_016875144.1:n.1575+20609G>A
XM_017019656.2:c.1575+20609G>A XP_016875145.1:n.1575+20609G>A
XM_017019657.2:c.1575+20609G>A XP_016875146.1:n.1575+20609G>A
XM_017019658.2:c.1575+20609G>A XP_016875147.1:n.1575+20609G>A
XM_024449060.1:c.315+20609G>A XP_024304828.1:n.315+20609G>A
XM_024449061.1:c.471+20609G>A XP_024304829.1:n.471+20609G>A
XM_024449062.1:c.315+20609G>A XP_024304830.1:n.315+20609G>A
XM_024449063.1:c.315+20609G>A XP_024304831.1:n.315+20609G>A
XR_001748815.2:n.2111+20609G>A
NM_001352186.2:c.1575+20609G>A MANE Select NP_001339115.1:n.1575+20609G>A
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