Canonical Allele Identifier: CA1869916271
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104798569G= , CM000671.2:g.104798569G= GRCh38
NC_000009.11:g.107560850G= , CM000671.1:g.107560850G= GRCh37
NC_000009.10:g.106600671G= NCBI36
NG_007981.1:g.134587C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.4973C= MANE Select ENSP00000363868.3:p.Ser1658=
ENST00000678995.1:c.4979C= ENSP00000504612.1:p.Ser1660=
ENST00000374736.7:c.4973C= ENSP00000363868.3:p.Ser1658=
NM_005502.3:c.4973C= NP_005493.2:p.Ser1658=
XM_005251773.1:c.4979C= XP_005251830.1:p.Ser1660=
XM_005251776.1:c.4799C= XP_005251833.1:p.Ser1600=
XM_011518339.1:c.5054C= XP_011516641.1:p.Ser1685=
XM_011518340.1:c.5054C= XP_011516642.1:p.Ser1685=
XM_011518341.1:c.5048C= XP_011516643.1:p.Ser1683=
XM_011518342.1:c.4616C= XP_011516644.1:p.Ser1539=
XM_011518343.1:c.5054C= XP_011516645.1:p.Ser1685=
XM_005251773.3:c.4979C= XP_005251830.1:p.Ser1660=
XM_005251776.3:c.4799C= XP_005251833.1:p.Ser1600=
XM_011518339.3:c.5054C= XP_011516641.1:p.Ser1685=
XM_011518340.3:c.5054C= XP_011516642.1:p.Ser1685=
XM_011518341.3:c.5048C= XP_011516643.1:p.Ser1683=
XM_011518342.3:c.4616C= XP_011516644.1:p.Ser1539=
XM_017014378.2:c.5054C= XP_016869867.1:p.Ser1685=
XM_017014379.2:c.5054C= XP_016869868.1:p.Ser1685=
XM_017014380.2:c.5054C= XP_016869869.1:p.Ser1685=
XM_017014381.2:c.5054C= XP_016869870.1:p.Ser1685=
XM_017014382.2:c.4916C= XP_016869871.1:p.Ser1639=
XR_001746223.1:n.5367C=
NM_005502.4:c.4973C= MANE Select NP_005493.2:p.Ser1658=