Canonical Allele Identifier: CA1869929757
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104798370A= , CM000671.2:g.104798370A= GRCh38
NC_000009.11:g.107560651A= , CM000671.1:g.107560651A= GRCh37
NC_000009.10:g.106600472A= NCBI36
NG_007981.1:g.134786T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374736.8:c.5121+51T= MANE Select ENSP00000363868.3:n.5121+51T=
ENST00000678995.1:c.5127+51T= ENSP00000504612.1:n.5127+51T=
ENST00000374736.7:c.5121+51T= ENSP00000363868.3:n.5121+51T=
NM_005502.3:c.5121+51T= NP_005493.2:n.5121+51T=
XM_005251773.1:c.5127+51T= XP_005251830.1:n.5127+51T=
XM_005251776.1:c.4947+51T= XP_005251833.1:n.4947+51T=
XM_011518339.1:c.5202+51T= XP_011516641.1:n.5202+51T=
XM_011518340.1:c.5202+51T= XP_011516642.1:n.5202+51T=
XM_011518341.1:c.5196+51T= XP_011516643.1:n.5196+51T=
XM_011518342.1:c.4764+51T= XP_011516644.1:n.4764+51T=
XM_011518343.1:c.5202+51T= XP_011516645.1:n.5202+51T=
XM_005251773.3:c.5127+51T= XP_005251830.1:n.5127+51T=
XM_005251776.3:c.4947+51T= XP_005251833.1:n.4947+51T=
XM_011518339.3:c.5202+51T= XP_011516641.1:n.5202+51T=
XM_011518340.3:c.5202+51T= XP_011516642.1:n.5202+51T=
XM_011518341.3:c.5196+51T= XP_011516643.1:n.5196+51T=
XM_011518342.3:c.4764+51T= XP_011516644.1:n.4764+51T=
XM_017014378.2:c.5202+51T= XP_016869867.1:n.5202+51T=
XM_017014379.2:c.5202+51T= XP_016869868.1:n.5202+51T=
XM_017014380.2:c.5202+51T= XP_016869869.1:n.5202+51T=
XM_017014381.2:c.5202+51T= XP_016869870.1:n.5202+51T=
XM_017014382.2:c.5064+51T= XP_016869871.1:n.5064+51T=
XR_001746223.1:n.5515+51T=
NM_005502.4:c.5121+51T= MANE Select NP_005493.2:n.5121+51T=