Canonical Allele Identifier: CA13055506
Gene: ABCA1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs4149268

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104884939C>T , CM000671.2:g.104884939C>T GRCh38
NC_000009.11:g.107647220C>T , CM000671.1:g.107647220C>T GRCh37
NC_000009.10:g.106687041C>T NCBI36
NG_007981.1:g.48217G>A

Transcript Alleles

HGVS Amino-acid change
NM_005502.3:c.161-371G>A VV NP_005493.2:p.=
XM_005251773.1:c.161-371G>A XP_005251830.1:p.=
XM_005251776.1:c.-20-371G>A XP_005251833.1:p.=
XM_011518339.1:c.236-371G>A XP_011516641.1:p.=
XM_011518340.1:c.236-371G>A XP_011516642.1:p.=
XM_011518341.1:c.236-371G>A XP_011516643.1:p.=
XM_011518342.1:c.-61-1782G>A XP_011516644.1:p.=
XM_011518343.1:c.236-371G>A XP_011516645.1:p.=
XM_011518344.1:c.236-371G>A XP_011516646.1:p.=
XM_005251773.3:c.161-371G>A
XM_005251776.3:c.-20-371G>A
XM_011518339.3:c.236-371G>A
XM_011518340.3:c.236-371G>A
XM_011518341.3:c.236-371G>A
XM_011518342.3:c.-61-1782G>A
XM_011518344.2:c.236-371G>A
XM_017014378.2:c.236-371G>A XP_016869867.1:p.=
XM_017014379.2:c.236-371G>A XP_016869868.1:p.=
XM_017014380.2:c.236-371G>A XP_016869869.1:p.=
XM_017014381.2:c.236-371G>A XP_016869870.1:p.=
XM_017014382.2:c.98-371G>A XP_016869871.1:p.=
XR_001746223.1:n.549-371G>A
NM_005502.4:c.161-371G>A VV MANE Preferred
ENST00000374733.1:c.-20-371G>A ENSP00000363865.1:p.=
ENST00000374736.7:c.161-371G>A ENSP00000363868.3:p.=
ENST00000423487.6:c.161-371G>A ENSP00000416623.2:p.=