Canonical Allele Identifier: CA5167727
Gene: ABCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 364385
dbSNP Id: rs142688906

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104791982C>T , CM000671.2:g.104791982C>T GRCh38
NC_000009.11:g.107554263C>T , CM000671.1:g.107554263C>T GRCh37
NC_000009.10:g.106594084C>T NCBI36
NG_007981.1:g.141174G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.5774G>A MANE Select ENSP00000363868.3:p.Arg1925Gln
ENST00000678995.1:c.5780G>A ENSP00000504612.1:p.Arg1927Gln
ENST00000374736.7:c.5774G>A ENSP00000363868.3:p.Arg1925Gln
NM_005502.3:c.5774G>A NP_005493.2:p.Arg1925Gln
XM_005251773.1:c.5780G>A XP_005251830.1:p.Arg1927Gln
XM_005251776.1:c.5600G>A XP_005251833.1:p.Arg1867Gln
XM_011518339.1:c.5855G>A XP_011516641.1:p.Arg1952Gln
XM_011518340.1:c.5855G>A XP_011516642.1:p.Arg1952Gln
XM_011518341.1:c.5849G>A XP_011516643.1:p.Arg1950Gln
XM_011518342.1:c.5417G>A XP_011516644.1:p.Arg1806Gln
XM_011518343.1:c.5855G>A XP_011516645.1:p.Arg1952Gln
XM_005251773.3:c.5780G>A XP_005251830.1:p.Arg1927Gln
XM_005251776.3:c.5600G>A XP_005251833.1:p.Arg1867Gln
XM_011518339.3:c.5855G>A XP_011516641.1:p.Arg1952Gln
XM_011518340.3:c.5855G>A XP_011516642.1:p.Arg1952Gln
XM_011518341.3:c.5849G>A XP_011516643.1:p.Arg1950Gln
XM_011518342.3:c.5417G>A XP_011516644.1:p.Arg1806Gln
XM_017014378.2:c.5855G>A XP_016869867.1:p.Arg1952Gln
XM_017014379.2:c.5855G>A XP_016869868.1:p.Arg1952Gln
XM_017014380.2:c.5855G>A XP_016869869.1:p.Arg1952Gln
XM_017014381.2:c.5855G>A XP_016869870.1:p.Arg1952Gln
XM_017014382.2:c.5717G>A XP_016869871.1:p.Arg1906Gln
XR_001746223.1:n.6168G>A
NM_005502.4:c.5774G>A MANE Select NP_005493.2:p.Arg1925Gln