Canonical Allele Identifier: CA13035775
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs4149263

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104915008A>G , CM000671.2:g.104915008A>G GRCh38
NC_000009.11:g.107677289A>G , CM000671.1:g.107677289A>G GRCh37
NC_000009.10:g.106717110A>G NCBI36
NG_007981.1:g.18148T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.-92-11237T>C MANE Select ENSP00000363868.3:p.=
ENST00000678995.1:c.-92-11237T>C ENSP00000504612.1:p.=
ENST00000374733.1:c.-115+12927T>C ENSP00000363865.1:p.=
ENST00000374736.7:c.-92-11237T>C ENSP00000363868.3:p.=
ENST00000423487.6:c.-92-11237T>C ENSP00000416623.2:p.=
NM_005502.3:c.-92-11237T>C NP_005493.2:p.=
XM_005251773.1:c.-92-11237T>C XP_005251830.1:p.=
XM_005251776.1:c.-115+12927T>C XP_005251833.1:p.=
XM_011518339.1:c.-92-11237T>C XP_011516641.1:p.=
XM_011518341.1:c.-92-11237T>C XP_011516643.1:p.=
XM_011518342.1:c.-156+12927T>C XP_011516644.1:p.=
XM_011518343.1:c.-92-11237T>C XP_011516645.1:p.=
XM_011518344.1:c.-92-11237T>C XP_011516646.1:p.=
XR_428585.2:n.999-3654A>G
XR_428586.2:n.999-3654A>G
XR_428587.2:n.20+2668A>G
XM_005251773.3:c.-92-11237T>C XP_005251830.1:p.=
XM_005251776.3:c.-115+12927T>C XP_005251833.1:p.=
XM_011518339.3:c.-92-11237T>C XP_011516641.1:p.=
XM_011518341.3:c.-92-11237T>C XP_011516643.1:p.=
XM_011518342.3:c.-156+12927T>C XP_011516644.1:p.=
XM_011518344.2:c.-92-11237T>C XP_011516646.1:p.=
XR_001746223.1:n.222-11237T>C
NM_005502.4:c.-92-11237T>C MANE Select NP_005493.2:p.=