Canonical Allele Identifier: CA2580889628

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104828801-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104828801G>A , CM000671.2:g.104828801G>A	GRCh38
NC_000009.11:g.107591082G>A , CM000671.1:g.107591082G>A	GRCh37
NC_000009.10:g.106630903G>A	NCBI36
NG_007981.1:g.104355C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.2115+115C>T MANE Select	ENSP00000363868.3:n.2115+115C>T
ENST00000678995.1:c.2115+115C>T	ENSP00000504612.1:n.2115+115C>T
ENST00000374736.7:c.2115+115C>T	ENSP00000363868.3:n.2115+115C>T
ENST00000494467.1:n.288+115C>T
NM_005502.3:c.2115+115C>T	NP_005493.2:n.2115+115C>T
XM_005251773.1:c.2115+115C>T	XP_005251830.1:n.2115+115C>T
XM_005251776.1:c.1935+115C>T	XP_005251833.1:n.1935+115C>T
XM_011518339.1:c.2190+115C>T	XP_011516641.1:n.2190+115C>T
XM_011518340.1:c.2190+115C>T	XP_011516642.1:n.2190+115C>T
XM_011518341.1:c.2190+115C>T	XP_011516643.1:n.2190+115C>T
XM_011518342.1:c.1752+115C>T	XP_011516644.1:n.1752+115C>T
XM_011518343.1:c.2190+115C>T	XP_011516645.1:n.2190+115C>T
XM_011518344.1:c.2190+115C>T	XP_011516646.1:n.2190+115C>T
XM_005251773.3:c.2115+115C>T	XP_005251830.1:n.2115+115C>T
XM_005251776.3:c.1935+115C>T	XP_005251833.1:n.1935+115C>T
XM_011518339.3:c.2190+115C>T	XP_011516641.1:n.2190+115C>T
XM_011518340.3:c.2190+115C>T	XP_011516642.1:n.2190+115C>T
XM_011518341.3:c.2190+115C>T	XP_011516643.1:n.2190+115C>T
XM_011518342.3:c.1752+115C>T	XP_011516644.1:n.1752+115C>T
XM_011518344.2:c.2190+115C>T	XP_011516646.1:n.2190+115C>T
XM_017014378.2:c.2190+115C>T	XP_016869867.1:n.2190+115C>T
XM_017014379.2:c.2190+115C>T	XP_016869868.1:n.2190+115C>T
XM_017014380.2:c.2190+115C>T	XP_016869869.1:n.2190+115C>T
XM_017014381.2:c.2190+115C>T	XP_016869870.1:n.2190+115C>T
XM_017014382.2:c.2052+115C>T	XP_016869871.1:n.2052+115C>T
XR_001746223.1:n.2503+115C>T
NM_005502.4:c.2115+115C>T MANE Select	NP_005493.2:n.2115+115C>T