Canonical Allele Identifier: CA5167958
Gene: ABCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 364397
dbSNP Id: rs371136175

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104798523G>A , CM000671.2:g.104798523G>A GRCh38
NC_000009.11:g.107560804G>A , CM000671.1:g.107560804G>A GRCh37
NC_000009.10:g.106600625G>A NCBI36
NG_007981.1:g.134633C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.5019C>T MANE Select ENSP00000363868.3:p.Val1673=
ENST00000678995.1:c.5025C>T ENSP00000504612.1:p.Val1675=
ENST00000374736.7:c.5019C>T ENSP00000363868.3:p.Val1673=
NM_005502.3:c.5019C>T NP_005493.2:p.Val1673=
XM_005251773.1:c.5025C>T XP_005251830.1:p.Val1675=
XM_005251776.1:c.4845C>T XP_005251833.1:p.Val1615=
XM_011518339.1:c.5100C>T XP_011516641.1:p.Val1700=
XM_011518340.1:c.5100C>T XP_011516642.1:p.Val1700=
XM_011518341.1:c.5094C>T XP_011516643.1:p.Val1698=
XM_011518342.1:c.4662C>T XP_011516644.1:p.Val1554=
XM_011518343.1:c.5100C>T XP_011516645.1:p.Val1700=
XM_005251773.3:c.5025C>T XP_005251830.1:p.Val1675=
XM_005251776.3:c.4845C>T XP_005251833.1:p.Val1615=
XM_011518339.3:c.5100C>T XP_011516641.1:p.Val1700=
XM_011518340.3:c.5100C>T XP_011516642.1:p.Val1700=
XM_011518341.3:c.5094C>T XP_011516643.1:p.Val1698=
XM_011518342.3:c.4662C>T XP_011516644.1:p.Val1554=
XM_017014378.2:c.5100C>T XP_016869867.1:p.Val1700=
XM_017014379.2:c.5100C>T XP_016869868.1:p.Val1700=
XM_017014380.2:c.5100C>T XP_016869869.1:p.Val1700=
XM_017014381.2:c.5100C>T XP_016869870.1:p.Val1700=
XM_017014382.2:c.4962C>T XP_016869871.1:p.Val1654=
XR_001746223.1:n.5413C>T
NM_005502.4:c.5019C>T MANE Select NP_005493.2:p.Val1673=