Canonical Allele Identifier: CA13016984
Gene: ABCA1 HGNC NCBI

Linked Data

dbSNP Id: rs4149274

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104877133G>A , CM000671.2:g.104877133G>A GRCh38
NC_000009.11:g.107639414G>A , CM000671.1:g.107639414G>A GRCh37
NC_000009.10:g.106679235G>A NCBI36
NG_007981.1:g.56023C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.421+5906C>T MANE Select ENSP00000363868.3:p.=
ENST00000678995.1:c.421+5906C>T ENSP00000504612.1:p.=
ENST00000374733.1:c.241+5906C>T ENSP00000363865.1:p.=
ENST00000374736.7:c.421+5906C>T ENSP00000363868.3:p.=
ENST00000423487.6:c.421+5906C>T ENSP00000416623.2:p.=
NM_005502.3:c.421+5906C>T NP_005493.2:p.=
XM_005251773.1:c.421+5906C>T XP_005251830.1:p.=
XM_005251776.1:c.241+5906C>T XP_005251833.1:p.=
XM_011518339.1:c.496+5906C>T XP_011516641.1:p.=
XM_011518340.1:c.496+5906C>T XP_011516642.1:p.=
XM_011518341.1:c.496+5906C>T XP_011516643.1:p.=
XM_011518342.1:c.58+5906C>T XP_011516644.1:p.=
XM_011518343.1:c.496+5906C>T XP_011516645.1:p.=
XM_011518344.1:c.496+5906C>T XP_011516646.1:p.=
XM_005251773.3:c.421+5906C>T XP_005251830.1:p.=
XM_005251776.3:c.241+5906C>T XP_005251833.1:p.=
XM_011518339.3:c.496+5906C>T XP_011516641.1:p.=
XM_011518340.3:c.496+5906C>T XP_011516642.1:p.=
XM_011518341.3:c.496+5906C>T XP_011516643.1:p.=
XM_011518342.3:c.58+5906C>T XP_011516644.1:p.=
XM_011518344.2:c.496+5906C>T XP_011516646.1:p.=
XM_017014378.2:c.496+5906C>T XP_016869867.1:p.=
XM_017014379.2:c.496+5906C>T XP_016869868.1:p.=
XM_017014380.2:c.496+5906C>T XP_016869869.1:p.=
XM_017014381.2:c.496+5906C>T XP_016869870.1:p.=
XM_017014382.2:c.358+5906C>T XP_016869871.1:p.=
XR_001746223.1:n.809+5906C>T
NM_005502.4:c.421+5906C>T MANE Select NP_005493.2:p.=