Canonical Allele Identifier: CA2272413436

Gene: ABCA8

Linked Data

• dbSNP Id: rs4148008

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.68879153C>T , CM000679.2:g.68879153C>T	GRCh38
NC_000017.10:g.66875294C>T , CM000679.1:g.66875294C>T	GRCh37
NC_000017.9:g.64386889C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000586539.6:c.4039-1474G>A MANE Select	ENSP00000467271.1:n.4039-1474G>A
ENST00000269080.6:c.3919-1474G>A	ENSP00000269080.1:n.3919-1474G>A
ENST00000430352.6:c.4024-1474G>A	ENSP00000402814.3:n.4024-1474G>A
ENST00000586292.5:n.691-1474G>A
ENST00000586539.5:c.4039-1474G>A	ENSP00000467271.1:n.4039-1474G>A
ENST00000591459.1:n.1115G>A
NM_001288985.1:c.4039-1474G>A	NP_001275914.1:n.4039-1474G>A
NM_001288986.1:c.4024-1474G>A	NP_001275915.1:n.4024-1474G>A
NM_007168.3:c.3919-1474G>A	NP_009099.1:n.3919-1474G>A
XM_005256938.1:c.4039-1474G>A	XP_005256995.1:n.4039-1474G>A
XM_005256940.3:c.3856-1474G>A	XP_005256997.1:n.3856-1474G>A
XM_005256940.4:c.3856-1474G>A	XP_005256997.1:n.3856-1474G>A
XR_001752401.2:n.4375-1474G>A
XR_001752402.2:n.4305-1474G>A
XR_002957944.1:n.4210-1474G>A
XR_002957945.1:n.6827G>A
XR_002957946.1:n.5729-1474G>A
NM_001288985.2:c.4039-1474G>A MANE Select	NP_001275914.1:n.4039-1474G>A
NM_001375771.1:c.3856-1474G>A	NP_001362700.1:n.3856-1474G>A
NM_001375772.1:c.2617-1474G>A	NP_001362701.1:n.2617-1474G>A
NM_007168.4:c.3919-1474G>A	NP_009099.1:n.3919-1474G>A
NM_001288986.2:c.4024-1474G>A	NP_001275915.1:n.4024-1474G>A