Canonical Allele Identifier: CA242252232

Gene: ANKS1B

Linked Data

• dbSNP Id: rs1020150211
• gnomAD v3: 12-98738382-G-C
• gnomAD v4: 12-98738382-G-C
• MyVariant Identifiers: chr12:g.99132160G>C (hg19) ; chr12:g.98738382G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.98738382G>C , CM000674.2:g.98738382G>C	GRCh38
NC_000012.11:g.99132160G>C , CM000674.1:g.99132160G>C	GRCh37
NC_000012.10:g.97656291G>C	NCBI36
NG_029860.1:g.1251273C>G
NG_029860.2:g.1251273C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341752.11:c.691-2748C>G	ENSP00000345510.6:n.691-2748C>G
ENST00000547010.5:c.2221-2748C>G	ENSP00000448512.1:n.2221-2748C>G
ENST00000547776.6:c.3673-2748C>G	ENSP00000449629.2:n.3673-2748C>G
ENST00000549558.6:c.1171-2748C>G	ENSP00000448993.2:n.1171-2748C>G
ENST00000551212.1:n.317-2748C>G
ENST00000555119.1:c.83-2748C>G
NM_001204081.1:c.691-2748C>G	NP_001191010.1:n.691-2748C>G
NM_020140.3:c.1171-2748C>G	NP_064525.1:n.1171-2748C>G
NM_152788.4:c.3673-2748C>G	NP_690001.3:n.3673-2748C>G
XM_006719507.2:c.3748-2748C>G	XP_006719570.1:n.3748-2748C>G
XM_006719514.2:c.3481-2748C>G	XP_006719577.1:n.3481-2748C>G
XR_944628.1:n.4564-2748C>G
XR_944629.1:n.4563+7142C>G
NM_001352196.1:c.1423-2748C>G	NP_001339125.1:n.1423-2748C>G
NM_001352197.1:c.1351-2748C>G	NP_001339126.1:n.1351-2748C>G
NM_001352213.1:c.466-2748C>G	NP_001339142.1:n.466-2748C>G
NM_001352214.1:c.466-2748C>G	NP_001339143.1:n.466-2748C>G
NM_001352216.1:c.466-2748C>G	NP_001339145.1:n.466-2748C>G
NM_001352223.1:c.766-2748C>G	NP_001339152.1:n.766-2748C>G
XM_006719507.4:c.3748-2748C>G	XP_006719570.1:n.3748-2748C>G
XM_006719514.4:c.3481-2748C>G	XP_006719577.1:n.3481-2748C>G
XM_017019653.2:c.3745-2748C>G	XP_016875142.1:n.3745-2748C>G
XM_017019654.2:c.3733-2748C>G	XP_016875143.1:n.3733-2748C>G
XM_017019658.2:c.3493-2748C>G	XP_016875147.1:n.3493-2748C>G
XM_024449068.1:c.1324-2748C>G	XP_024304836.1:n.1324-2748C>G
XM_024449070.1:c.1255-2748C>G	XP_024304838.1:n.1255-2748C>G
NM_001204081.2:c.691-2748C>G	NP_001191010.1:n.691-2748C>G
NM_001352196.2:c.1423-2748C>G	NP_001339125.1:n.1423-2748C>G
NM_001352197.2:c.1351-2748C>G	NP_001339126.1:n.1351-2748C>G
NM_001352213.2:c.466-2748C>G	NP_001339142.1:n.466-2748C>G
NM_001352214.2:c.466-2748C>G	NP_001339143.1:n.466-2748C>G
NM_001352216.2:c.466-2748C>G	NP_001339145.1:n.466-2748C>G
NM_001352223.2:c.766-2748C>G	NP_001339152.1:n.766-2748C>G
NM_020140.4:c.1171-2748C>G	NP_064525.1:n.1171-2748C>G