Canonical Allele Identifier: CA374315478

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104806257-C-T
• MyVariant Identifiers: chr9:g.107568538C>T (hg19) ; chr9:g.104806257C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806257C>T , CM000671.2:g.104806257C>T	GRCh38
NC_000009.11:g.107568538C>T , CM000671.1:g.107568538C>T	GRCh37
NC_000009.10:g.106608359C>T	NCBI36
NG_007981.1:g.126899G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4448G>A MANE Select	ENSP00000363868.3:p.Gly1483Glu
ENST00000678995.1:c.4454G>A	ENSP00000504612.1:p.Gly1485Glu
ENST00000374736.7:c.4448G>A	ENSP00000363868.3:p.Gly1483Glu
NM_005502.3:c.4448G>A	NP_005493.2:p.Gly1483Glu
XM_005251773.1:c.4454G>A	XP_005251830.1:p.Gly1485Glu
XM_005251776.1:c.4274G>A	XP_005251833.1:p.Gly1425Glu
XM_011518339.1:c.4529G>A	XP_011516641.1:p.Gly1510Glu
XM_011518340.1:c.4529G>A	XP_011516642.1:p.Gly1510Glu
XM_011518341.1:c.4523G>A	XP_011516643.1:p.Gly1508Glu
XM_011518342.1:c.4091G>A	XP_011516644.1:p.Gly1364Glu
XM_011518343.1:c.4529G>A	XP_011516645.1:p.Gly1510Glu
XM_011518344.1:c.4529G>A	XP_011516646.1:p.Gly1510Glu
XM_005251773.3:c.4454G>A	XP_005251830.1:p.Gly1485Glu
XM_005251776.3:c.4274G>A	XP_005251833.1:p.Gly1425Glu
XM_011518339.3:c.4529G>A	XP_011516641.1:p.Gly1510Glu
XM_011518340.3:c.4529G>A	XP_011516642.1:p.Gly1510Glu
XM_011518341.3:c.4523G>A	XP_011516643.1:p.Gly1508Glu
XM_011518342.3:c.4091G>A	XP_011516644.1:p.Gly1364Glu
XM_011518344.2:c.4529G>A	XP_011516646.1:p.Gly1510Glu
XM_017014378.2:c.4529G>A	XP_016869867.1:p.Gly1510Glu
XM_017014379.2:c.4529G>A	XP_016869868.1:p.Gly1510Glu
XM_017014380.2:c.4529G>A	XP_016869869.1:p.Gly1510Glu
XM_017014381.2:c.4529G>A	XP_016869870.1:p.Gly1510Glu
XM_017014382.2:c.4391G>A	XP_016869871.1:p.Gly1464Glu
XR_001746223.1:n.4842G>A
NM_005502.4:c.4448G>A MANE Select	NP_005493.2:p.Gly1483Glu