Canonical Allele Identifier: CA858080441
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs1451149098

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104915017G>T , CM000671.2:g.104915017G>T GRCh38
NC_000009.11:g.107677298G>T , CM000671.1:g.107677298G>T GRCh37
NC_000009.10:g.106717119G>T NCBI36
NG_007981.1:g.18139C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.-92-11246C>A MANE Select ENSP00000363868.3:n.-92-11246C>A
ENST00000678995.1:c.-92-11246C>A ENSP00000504612.1:n.-92-11246C>A
ENST00000374733.1:c.-115+12918C>A ENSP00000363865.1:n.-115+12918C>A
ENST00000374736.7:c.-92-11246C>A ENSP00000363868.3:n.-92-11246C>A
ENST00000423487.6:c.-92-11246C>A ENSP00000416623.2:n.-92-11246C>A
NM_005502.3:c.-92-11246C>A NP_005493.2:n.-92-11246C>A
XM_005251773.1:c.-92-11246C>A XP_005251830.1:n.-92-11246C>A
XM_005251776.1:c.-115+12918C>A XP_005251833.1:n.-115+12918C>A
XM_011518339.1:c.-92-11246C>A XP_011516641.1:n.-92-11246C>A
XM_011518341.1:c.-92-11246C>A XP_011516643.1:n.-92-11246C>A
XM_011518342.1:c.-156+12918C>A XP_011516644.1:n.-156+12918C>A
XM_011518343.1:c.-92-11246C>A XP_011516645.1:n.-92-11246C>A
XM_011518344.1:c.-92-11246C>A XP_011516646.1:n.-92-11246C>A
XR_428585.2:n.999-3645G>T
XR_428586.2:n.999-3645G>T
XR_428587.2:n.20+2677G>T
XM_005251773.3:c.-92-11246C>A XP_005251830.1:n.-92-11246C>A
XM_005251776.3:c.-115+12918C>A XP_005251833.1:n.-115+12918C>A
XM_011518339.3:c.-92-11246C>A XP_011516641.1:n.-92-11246C>A
XM_011518341.3:c.-92-11246C>A XP_011516643.1:n.-92-11246C>A
XM_011518342.3:c.-156+12918C>A XP_011516644.1:n.-156+12918C>A
XM_011518344.2:c.-92-11246C>A XP_011516646.1:n.-92-11246C>A
XR_001746223.1:n.222-11246C>A
NM_005502.4:c.-92-11246C>A MANE Select NP_005493.2:n.-92-11246C>A