Canonical Allele Identifier: CA2691050201

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104790902-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104790902C>G , CM000671.2:g.104790902C>G	GRCh38
NC_000009.11:g.107553183C>G , CM000671.1:g.107553183C>G	GRCh37
NC_000009.10:g.106593004C>G	NCBI36
NG_007981.1:g.142254G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.5927+20G>C MANE Select	ENSP00000363868.3:n.5927+20G>C
ENST00000678995.1:c.5933+20G>C	ENSP00000504612.1:n.5933+20G>C
ENST00000374736.7:c.5927+20G>C	ENSP00000363868.3:n.5927+20G>C
NM_005502.3:c.5927+20G>C	NP_005493.2:n.5927+20G>C
XM_005251773.1:c.5933+20G>C	XP_005251830.1:n.5933+20G>C
XM_005251776.1:c.5753+20G>C	XP_005251833.1:n.5753+20G>C
XM_011518339.1:c.6008+20G>C	XP_011516641.1:n.6008+20G>C
XM_011518340.1:c.6008+20G>C	XP_011516642.1:n.6008+20G>C
XM_011518341.1:c.6002+20G>C	XP_011516643.1:n.6002+20G>C
XM_011518342.1:c.5570+20G>C	XP_011516644.1:n.5570+20G>C
XM_011518343.1:c.6008+20G>C	XP_011516645.1:n.6008+20G>C
XM_005251773.3:c.5933+20G>C	XP_005251830.1:n.5933+20G>C
XM_005251776.3:c.5753+20G>C	XP_005251833.1:n.5753+20G>C
XM_011518339.3:c.6008+20G>C	XP_011516641.1:n.6008+20G>C
XM_011518340.3:c.6008+20G>C	XP_011516642.1:n.6008+20G>C
XM_011518341.3:c.6002+20G>C	XP_011516643.1:n.6002+20G>C
XM_011518342.3:c.5570+20G>C	XP_011516644.1:n.5570+20G>C
XM_017014378.2:c.6008+20G>C	XP_016869867.1:n.6008+20G>C
XM_017014379.2:c.6008+20G>C	XP_016869868.1:n.6008+20G>C
XM_017014380.2:c.6008+20G>C	XP_016869869.1:n.6008+20G>C
XM_017014381.2:c.6008+20G>C	XP_016869870.1:n.6008+20G>C
XM_017014382.2:c.5870+20G>C	XP_016869871.1:n.5870+20G>C
XR_001746223.1:n.6321+20G>C
NM_005502.4:c.5927+20G>C MANE Select	NP_005493.2:n.5927+20G>C