Canonical Allele Identifier: CA206685
Gene: ABCA13 HGNC NCBI

Linked Data

ClinVar Variation Id: 210065
ClinVar RCV Id: RCV000193300
dbSNP Id: rs797045205
gnomAD v2: 7-48427558-T-C
gnomAD v3: 7-48387961-T-C
gnomAD v4: 7-48387961-T-C
MyVariant Identifiers: chr7:g.48427558T>C (hg19) chr7:g.48387961T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.48387961T>C , CM000669.2:g.48387961T>C GRCh38
NC_000007.13:g.48427558T>C , CM000669.1:g.48427558T>C GRCh37
NC_000007.12:g.48398104T>C NCBI36
NG_012385.2:g.221502T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000435803.6:c.11473+2T>C MANE Select ENSP00000411096.1:n.11473+2T>C
ENST00000435803.5:c.11473+2T>C ENSP00000411096.1:n.11473+2T>C
ENST00000453246.5:c.269+2T>C
ENST00000484268.1:n.1957+2T>C
ENST00000544596.5:c.3392+2T>C
ENST00000611776.4:n.3392+2T>C
NM_152701.4:c.11473+2T>C NP_689914.3:n.11473+2T>C
XM_011515130.1:c.11473+2T>C XP_011513432.1:n.11473+2T>C
XM_011515131.1:c.11473+2T>C XP_011513433.1:n.11473+2T>C
XM_011515132.1:c.11473+2T>C XP_011513434.1:n.11473+2T>C
XM_011515133.1:c.11336-1079T>C XP_011513435.1:n.11336-1079T>C
XM_011515134.1:c.11473+2T>C XP_011513436.1:n.11473+2T>C
XM_011515135.1:c.11473+2T>C XP_011513437.1:n.11473+2T>C
XM_011515136.1:c.10690+2T>C XP_011513438.1:n.10690+2T>C
XM_011515137.1:c.11473+2T>C XP_011513439.1:n.11473+2T>C
XM_011515138.1:c.11473+2T>C XP_011513440.1:n.11473+2T>C
XM_011515139.1:c.11473+2T>C XP_011513441.1:n.11473+2T>C
XM_011515140.1:c.11473+2T>C XP_011513442.1:n.11473+2T>C
XM_011515141.1:c.11473+2T>C XP_011513443.1:n.11473+2T>C
XM_011515142.1:c.11473+2T>C XP_011513444.1:n.11473+2T>C
XM_011515143.1:c.11473+2T>C XP_011513445.1:n.11473+2T>C
XM_011515144.1:c.11473+2T>C XP_011513446.1:n.11473+2T>C
XR_926914.1:n.11509+2T>C
XR_926915.1:n.11509+2T>C
XR_926916.1:n.11509+2T>C
XR_926917.1:n.11509+2T>C
XR_926918.1:n.11509+2T>C
XR_926919.1:n.11509+2T>C
XR_926920.1:n.11509+2T>C
XR_926921.1:n.11509+2T>C
XM_011515130.2:c.11473+2T>C XP_011513432.1:n.11473+2T>C
XM_011515131.2:c.11473+2T>C XP_011513433.1:n.11473+2T>C
XM_011515132.2:c.11473+2T>C XP_011513434.1:n.11473+2T>C
XM_011515133.2:c.11336-1079T>C XP_011513435.1:n.11336-1079T>C
XM_011515134.2:c.11473+2T>C XP_011513436.1:n.11473+2T>C
XM_011515136.2:c.10879+2T>C XP_011513438.2:n.10879+2T>C
XM_011515137.3:c.11473+2T>C XP_011513439.1:n.11473+2T>C
XM_011515138.2:c.11473+2T>C XP_011513440.1:n.11473+2T>C
XM_011515139.2:c.11473+2T>C XP_011513441.1:n.11473+2T>C
XM_011515141.2:c.11473+2T>C XP_011513443.1:n.11473+2T>C
XM_011515142.2:c.11473+2T>C XP_011513444.1:n.11473+2T>C
XM_011515143.2:c.11473+2T>C XP_011513445.1:n.11473+2T>C
XM_011515144.2:c.11473+2T>C XP_011513446.1:n.11473+2T>C
XM_017011767.1:c.11473+2T>C XP_016867256.1:n.11473+2T>C
XM_017011768.1:c.11473+2T>C XP_016867257.1:n.11473+2T>C
XR_001744555.1:n.11529+2T>C
XR_926914.2:n.11529+2T>C
XR_926915.2:n.11529+2T>C
XR_926916.2:n.11529+2T>C
XR_926919.2:n.11529+2T>C
NM_152701.5:c.11473+2T>C MANE Select NP_689914.3:n.11473+2T>C
Search 100 bp 5'
Search 100 bp 3'