Canonical Allele Identifier: CA2580597607

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104928169-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104928169G>T , CM000671.2:g.104928169G>T	GRCh38
NC_000009.11:g.107690450G>T , CM000671.1:g.107690450G>T	GRCh37
NC_000009.10:g.106730271G>T	NCBI36
NG_007981.1:g.4987C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.7:c.-327C>A	ENSP00000363868.3:n.-327C>A
NM_005502.3:c.-327C>A	NP_005493.2:n.-327C>A
XM_011518342.1:c.-390C>A	XP_011516644.1:n.-390C>A
XR_930204.1:n.734+259G>T
XM_011518342.3:c.-390C>A	XP_011516644.1:n.-390C>A
XR_930204.2:n.115+259G>T