Canonical Allele Identifier: CA2564131045

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104928072-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104928072C>T , CM000671.2:g.104928072C>T	GRCh38
NC_000009.11:g.107690353C>T , CM000671.1:g.107690353C>T	GRCh37
NC_000009.10:g.106730174C>T	NCBI36
NG_007981.1:g.5084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.-230G>A MANE Select	ENSP00000363868.3:n.-230G>A
ENST00000678995.1:c.-230G>A	ENSP00000504612.1:n.-230G>A
ENST00000374733.1:c.-252G>A	ENSP00000363865.1:n.-252G>A
ENST00000374736.7:c.-230G>A	ENSP00000363868.3:n.-230G>A
ENST00000423487.6:c.-230G>A	ENSP00000416623.2:n.-230G>A
NM_005502.3:c.-230G>A	NP_005493.2:n.-230G>A
XM_005251773.1:c.-230G>A	XP_005251830.1:n.-230G>A
XM_005251776.1:c.-252G>A	XP_005251833.1:n.-252G>A
XM_011518339.1:c.-230G>A	XP_011516641.1:n.-230G>A
XM_011518341.1:c.-230G>A	XP_011516643.1:n.-230G>A
XM_011518342.1:c.-293G>A	XP_011516644.1:n.-293G>A
XM_011518343.1:c.-230G>A	XP_011516645.1:n.-230G>A
XM_011518344.1:c.-230G>A	XP_011516646.1:n.-230G>A
XR_930204.1:n.734+162C>T
XM_005251773.3:c.-230G>A	XP_005251830.1:n.-230G>A
XM_005251776.3:c.-252G>A	XP_005251833.1:n.-252G>A
XM_011518339.3:c.-230G>A	XP_011516641.1:n.-230G>A
XM_011518341.3:c.-230G>A	XP_011516643.1:n.-230G>A
XM_011518342.3:c.-293G>A	XP_011516644.1:n.-293G>A
XM_011518344.2:c.-230G>A	XP_011516646.1:n.-230G>A
XR_001746223.1:n.84G>A
XR_930204.2:n.115+162C>T
NM_005502.4:c.-230G>A MANE Select	NP_005493.2:n.-230G>A