Canonical Allele Identifier: CA5167692
Gene: ABCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 928662
dbSNP Id: rs2020927

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104790904A>G , CM000671.2:g.104790904A>G GRCh38
NC_000009.11:g.107553185A>G , CM000671.1:g.107553185A>G GRCh37
NC_000009.10:g.106593006A>G NCBI36
NG_007981.1:g.142252T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.5927+18T>C MANE Select ENSP00000363868.3:n.5927+18T>C
ENST00000678995.1:c.5933+18T>C ENSP00000504612.1:n.5933+18T>C
ENST00000374736.7:c.5927+18T>C ENSP00000363868.3:n.5927+18T>C
NM_005502.3:c.5927+18T>C NP_005493.2:n.5927+18T>C
XM_005251773.1:c.5933+18T>C XP_005251830.1:n.5933+18T>C
XM_005251776.1:c.5753+18T>C XP_005251833.1:n.5753+18T>C
XM_011518339.1:c.6008+18T>C XP_011516641.1:n.6008+18T>C
XM_011518340.1:c.6008+18T>C XP_011516642.1:n.6008+18T>C
XM_011518341.1:c.6002+18T>C XP_011516643.1:n.6002+18T>C
XM_011518342.1:c.5570+18T>C XP_011516644.1:n.5570+18T>C
XM_011518343.1:c.6008+18T>C XP_011516645.1:n.6008+18T>C
XM_005251773.3:c.5933+18T>C XP_005251830.1:n.5933+18T>C
XM_005251776.3:c.5753+18T>C XP_005251833.1:n.5753+18T>C
XM_011518339.3:c.6008+18T>C XP_011516641.1:n.6008+18T>C
XM_011518340.3:c.6008+18T>C XP_011516642.1:n.6008+18T>C
XM_011518341.3:c.6002+18T>C XP_011516643.1:n.6002+18T>C
XM_011518342.3:c.5570+18T>C XP_011516644.1:n.5570+18T>C
XM_017014378.2:c.6008+18T>C XP_016869867.1:n.6008+18T>C
XM_017014379.2:c.6008+18T>C XP_016869868.1:n.6008+18T>C
XM_017014380.2:c.6008+18T>C XP_016869869.1:n.6008+18T>C
XM_017014381.2:c.6008+18T>C XP_016869870.1:n.6008+18T>C
XM_017014382.2:c.5870+18T>C XP_016869871.1:n.5870+18T>C
XR_001746223.1:n.6321+18T>C
NM_005502.4:c.5927+18T>C MANE Select NP_005493.2:n.5927+18T>C