Canonical Allele Identifier: CA1869947937
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104818840G= , CM000671.2:g.104818840G= GRCh38
NC_000009.11:g.107581121G= , CM000671.1:g.107581121G= GRCh37
NC_000009.10:g.106620942G= NCBI36
NG_007981.1:g.114316C=

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.3285C= MANE Select ENSP00000363868.3:p.Asp1095=
ENST00000678995.1:c.3285C= ENSP00000504612.1:p.Asp1095=
ENST00000374736.7:c.3285C= ENSP00000363868.3:p.Asp1095=
NM_005502.3:c.3285C= NP_005493.2:p.Asp1095=
XM_005251773.1:c.3285C= XP_005251830.1:p.Asp1095=
XM_005251776.1:c.3105C= XP_005251833.1:p.Asp1035=
XM_011518339.1:c.3360C= XP_011516641.1:p.Asp1120=
XM_011518340.1:c.3360C= XP_011516642.1:p.Asp1120=
XM_011518341.1:c.3360C= XP_011516643.1:p.Asp1120=
XM_011518342.1:c.2922C= XP_011516644.1:p.Asp974=
XM_011518343.1:c.3360C= XP_011516645.1:p.Asp1120=
XM_011518344.1:c.3360C= XP_011516646.1:p.Asp1120=
XM_005251773.3:c.3285C= XP_005251830.1:p.Asp1095=
XM_005251776.3:c.3105C= XP_005251833.1:p.Asp1035=
XM_011518339.3:c.3360C= XP_011516641.1:p.Asp1120=
XM_011518340.3:c.3360C= XP_011516642.1:p.Asp1120=
XM_011518341.3:c.3360C= XP_011516643.1:p.Asp1120=
XM_011518342.3:c.2922C= XP_011516644.1:p.Asp974=
XM_011518344.2:c.3360C= XP_011516646.1:p.Asp1120=
XM_017014378.2:c.3360C= XP_016869867.1:p.Asp1120=
XM_017014379.2:c.3360C= XP_016869868.1:p.Asp1120=
XM_017014380.2:c.3360C= XP_016869869.1:p.Asp1120=
XM_017014381.2:c.3360C= XP_016869870.1:p.Asp1120=
XM_017014382.2:c.3222C= XP_016869871.1:p.Asp1074=
XR_001746223.1:n.3673C=
NM_005502.4:c.3285C= MANE Select NP_005493.2:p.Asp1095=