Canonical Allele Identifier: CA1181420646

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94042782G= , CM000663.2:g.94042782G=	GRCh38
NC_000001.10:g.94508338G= , CM000663.1:g.94508338G=	GRCh37
NC_000001.9:g.94280926G=	NCBI36
NG_009073.1:g.83368C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.3307C= MANE Select	ENSP00000359245.3:p.Leu1103=
ENST00000370225.3:c.3307C=	ENSP00000359245.3:p.Leu1103=
ENST00000536513.5:c.-64-2693C=	ENSP00000439707.2:n.-64-2693C=
NM_000350.2:c.3307C=	NP_000341.2:p.Leu1103=
NM_000350.3:c.3307C= MANE Select	NP_000341.2:p.Leu1103=