Canonical Allele Identifier: CA197395279

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104783332T>A , CM000671.2:g.104783332T>A	GRCh38
NC_000009.11:g.107545613T>A , CM000671.1:g.107545613T>A	GRCh37
NC_000009.10:g.106585434T>A	NCBI36
NG_007981.1:g.149824A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005502.4:c.*983A>T MANE Select	NP_005493.2:n.*983A>T
ENST00000374736.8:c.*983A>T MANE Select	ENSP00000363868.3:n.*983A>T
NM_005502.3:c.*983A>T	NP_005493.2:n.*983A>T
ENST00000374736.7:c.*983A>T	ENSP00000363868.3:n.*983A>T
ENST00000678995.1:c.*983A>T	ENSP00000504612.1:n.*983A>T
XM_005251773.1:c.*983A>T	XP_005251830.1:n.*983A>T
XM_005251773.3:c.*983A>T	XP_005251830.1:n.*983A>T
XM_005251776.1:c.*983A>T	XP_005251833.1:n.*983A>T
XM_005251776.3:c.*983A>T	XP_005251833.1:n.*983A>T
XM_011518339.1:c.*983A>T	XP_011516641.1:n.*983A>T
XM_011518339.3:c.*983A>T	XP_011516641.1:n.*983A>T
XM_011518340.1:c.*983A>T	XP_011516642.1:n.*983A>T
XM_011518340.3:c.*983A>T	XP_011516642.1:n.*983A>T
XM_011518341.1:c.*983A>T	XP_011516643.1:n.*983A>T
XM_011518341.3:c.*983A>T	XP_011516643.1:n.*983A>T
XM_011518342.1:c.*983A>T	XP_011516644.1:n.*983A>T
XM_011518342.3:c.*983A>T	XP_011516644.1:n.*983A>T
XM_017014378.2:c.*983A>T	XP_016869867.1:n.*983A>T
XM_017014379.2:c.*983A>T	XP_016869868.1:n.*983A>T
XM_017014380.2:c.*983A>T	XP_016869869.1:n.*983A>T
XM_017014381.2:c.*983A>T	XP_016869870.1:n.*983A>T
XM_017014382.2:c.*983A>T	XP_016869871.1:n.*983A>T