Canonical Allele Identifier: CA197397328

Gene: ABCA1

Linked Data

• dbSNP Id: rs113655319
• MyVariant Identifiers: chr9:g.107594525C>T (hg19) ; chr9:g.104832244C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104832244C>T , CM000671.2:g.104832244C>T	GRCh38
NC_000009.11:g.107594525C>T , CM000671.1:g.107594525C>T	GRCh37
NC_000009.10:g.106634346C>T	NCBI36
NG_007981.1:g.100912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1509+330G>A MANE Select	ENSP00000363868.3:n.1509+330G>A
ENST00000678995.1:c.1509+330G>A	ENSP00000504612.1:n.1509+330G>A
ENST00000374736.7:c.1509+330G>A	ENSP00000363868.3:n.1509+330G>A
NM_005502.3:c.1509+330G>A	NP_005493.2:n.1509+330G>A
XM_005251773.1:c.1509+330G>A	XP_005251830.1:n.1509+330G>A
XM_005251776.1:c.1329+330G>A	XP_005251833.1:n.1329+330G>A
XM_011518339.1:c.1584+330G>A	XP_011516641.1:n.1584+330G>A
XM_011518340.1:c.1584+330G>A	XP_011516642.1:n.1584+330G>A
XM_011518341.1:c.1584+330G>A	XP_011516643.1:n.1584+330G>A
XM_011518342.1:c.1146+330G>A	XP_011516644.1:n.1146+330G>A
XM_011518343.1:c.1584+330G>A	XP_011516645.1:n.1584+330G>A
XM_011518344.1:c.1584+330G>A	XP_011516646.1:n.1584+330G>A
XM_005251773.3:c.1509+330G>A	XP_005251830.1:n.1509+330G>A
XM_005251776.3:c.1329+330G>A	XP_005251833.1:n.1329+330G>A
XM_011518339.3:c.1584+330G>A	XP_011516641.1:n.1584+330G>A
XM_011518340.3:c.1584+330G>A	XP_011516642.1:n.1584+330G>A
XM_011518341.3:c.1584+330G>A	XP_011516643.1:n.1584+330G>A
XM_011518342.3:c.1146+330G>A	XP_011516644.1:n.1146+330G>A
XM_011518344.2:c.1584+330G>A	XP_011516646.1:n.1584+330G>A
XM_017014378.2:c.1584+330G>A	XP_016869867.1:n.1584+330G>A
XM_017014379.2:c.1584+330G>A	XP_016869868.1:n.1584+330G>A
XM_017014380.2:c.1584+330G>A	XP_016869869.1:n.1584+330G>A
XM_017014381.2:c.1584+330G>A	XP_016869870.1:n.1584+330G>A
XM_017014382.2:c.1446+330G>A	XP_016869871.1:n.1446+330G>A
XR_001746223.1:n.1897+330G>A
NM_005502.4:c.1509+330G>A MANE Select	NP_005493.2:n.1509+330G>A