Canonical Allele Identifier: CA2691050207

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104790907-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104790907C>A , CM000671.2:g.104790907C>A	GRCh38
NC_000009.11:g.107553188C>A , CM000671.1:g.107553188C>A	GRCh37
NC_000009.10:g.106593009C>A	NCBI36
NG_007981.1:g.142249G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.5927+15G>T MANE Select	ENSP00000363868.3:n.5927+15G>T
ENST00000678995.1:c.5933+15G>T	ENSP00000504612.1:n.5933+15G>T
ENST00000374736.7:c.5927+15G>T	ENSP00000363868.3:n.5927+15G>T
NM_005502.3:c.5927+15G>T	NP_005493.2:n.5927+15G>T
XM_005251773.1:c.5933+15G>T	XP_005251830.1:n.5933+15G>T
XM_005251776.1:c.5753+15G>T	XP_005251833.1:n.5753+15G>T
XM_011518339.1:c.6008+15G>T	XP_011516641.1:n.6008+15G>T
XM_011518340.1:c.6008+15G>T	XP_011516642.1:n.6008+15G>T
XM_011518341.1:c.6002+15G>T	XP_011516643.1:n.6002+15G>T
XM_011518342.1:c.5570+15G>T	XP_011516644.1:n.5570+15G>T
XM_011518343.1:c.6008+15G>T	XP_011516645.1:n.6008+15G>T
XM_005251773.3:c.5933+15G>T	XP_005251830.1:n.5933+15G>T
XM_005251776.3:c.5753+15G>T	XP_005251833.1:n.5753+15G>T
XM_011518339.3:c.6008+15G>T	XP_011516641.1:n.6008+15G>T
XM_011518340.3:c.6008+15G>T	XP_011516642.1:n.6008+15G>T
XM_011518341.3:c.6002+15G>T	XP_011516643.1:n.6002+15G>T
XM_011518342.3:c.5570+15G>T	XP_011516644.1:n.5570+15G>T
XM_017014378.2:c.6008+15G>T	XP_016869867.1:n.6008+15G>T
XM_017014379.2:c.6008+15G>T	XP_016869868.1:n.6008+15G>T
XM_017014380.2:c.6008+15G>T	XP_016869869.1:n.6008+15G>T
XM_017014381.2:c.6008+15G>T	XP_016869870.1:n.6008+15G>T
XM_017014382.2:c.5870+15G>T	XP_016869871.1:n.5870+15G>T
XR_001746223.1:n.6321+15G>T
NM_005502.4:c.5927+15G>T MANE Select	NP_005493.2:n.5927+15G>T