Canonical Allele Identifier: CA466504287
Gene: ABCA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.107568540C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104806259C>T , CM000671.2:g.104806259C>T GRCh38
NC_000009.11:g.107568540C>T , CM000671.1:g.107568540C>T GRCh37
NC_000009.10:g.106608361C>T NCBI36
NG_007981.1:g.126897G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.4446G>A MANE Select ENSP00000363868.3:p.Gly1482=
ENST00000678995.1:c.4452G>A ENSP00000504612.1:p.Gly1484=
ENST00000374736.7:c.4446G>A ENSP00000363868.3:p.Gly1482=
NM_005502.3:c.4446G>A NP_005493.2:p.Gly1482=
XM_005251773.1:c.4452G>A XP_005251830.1:p.Gly1484=
XM_005251776.1:c.4272G>A XP_005251833.1:p.Gly1424=
XM_011518339.1:c.4527G>A XP_011516641.1:p.Gly1509=
XM_011518340.1:c.4527G>A XP_011516642.1:p.Gly1509=
XM_011518341.1:c.4521G>A XP_011516643.1:p.Gly1507=
XM_011518342.1:c.4089G>A XP_011516644.1:p.Gly1363=
XM_011518343.1:c.4527G>A XP_011516645.1:p.Gly1509=
XM_011518344.1:c.4527G>A XP_011516646.1:p.Gly1509=
XM_005251773.3:c.4452G>A XP_005251830.1:p.Gly1484=
XM_005251776.3:c.4272G>A XP_005251833.1:p.Gly1424=
XM_011518339.3:c.4527G>A XP_011516641.1:p.Gly1509=
XM_011518340.3:c.4527G>A XP_011516642.1:p.Gly1509=
XM_011518341.3:c.4521G>A XP_011516643.1:p.Gly1507=
XM_011518342.3:c.4089G>A XP_011516644.1:p.Gly1363=
XM_011518344.2:c.4527G>A XP_011516646.1:p.Gly1509=
XM_017014378.2:c.4527G>A XP_016869867.1:p.Gly1509=
XM_017014379.2:c.4527G>A XP_016869868.1:p.Gly1509=
XM_017014380.2:c.4527G>A XP_016869869.1:p.Gly1509=
XM_017014381.2:c.4527G>A XP_016869870.1:p.Gly1509=
XM_017014382.2:c.4389G>A XP_016869871.1:p.Gly1463=
XR_001746223.1:n.4840G>A
NM_005502.4:c.4446G>A MANE Select NP_005493.2:p.Gly1482=