Canonical Allele Identifier: CA1869916744
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104790923T= , CM000671.2:g.104790923T= GRCh38
NC_000009.11:g.107553204T= , CM000671.1:g.107553204T= GRCh37
NC_000009.10:g.106593025T= NCBI36
NG_007981.1:g.142233A=

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.5926A= MANE Select ENSP00000363868.3:p.Ser1976=
ENST00000678995.1:c.5932A= ENSP00000504612.1:p.Ser1978=
ENST00000374736.7:c.5926A= ENSP00000363868.3:p.Ser1976=
NM_005502.3:c.5926A= NP_005493.2:p.Ser1976=
XM_005251773.1:c.5932A= XP_005251830.1:p.Ser1978=
XM_005251776.1:c.5752A= XP_005251833.1:p.Ser1918=
XM_011518339.1:c.6007A= XP_011516641.1:p.Ser2003=
XM_011518340.1:c.6007A= XP_011516642.1:p.Ser2003=
XM_011518341.1:c.6001A= XP_011516643.1:p.Ser2001=
XM_011518342.1:c.5569A= XP_011516644.1:p.Ser1857=
XM_011518343.1:c.6007A= XP_011516645.1:p.Ser2003=
XM_005251773.3:c.5932A= XP_005251830.1:p.Ser1978=
XM_005251776.3:c.5752A= XP_005251833.1:p.Ser1918=
XM_011518339.3:c.6007A= XP_011516641.1:p.Ser2003=
XM_011518340.3:c.6007A= XP_011516642.1:p.Ser2003=
XM_011518341.3:c.6001A= XP_011516643.1:p.Ser2001=
XM_011518342.3:c.5569A= XP_011516644.1:p.Ser1857=
XM_017014378.2:c.6007A= XP_016869867.1:p.Ser2003=
XM_017014379.2:c.6007A= XP_016869868.1:p.Ser2003=
XM_017014380.2:c.6007A= XP_016869869.1:p.Ser2003=
XM_017014381.2:c.6007A= XP_016869870.1:p.Ser2003=
XM_017014382.2:c.5869A= XP_016869871.1:p.Ser1957=
XR_001746223.1:n.6320A=
NM_005502.4:c.5926A= MANE Select NP_005493.2:p.Ser1976=