Canonical Allele Identifier: CA1181422710

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94047209G= , CM000663.2:g.94047209G=	GRCh38
NC_000001.10:g.94512765G= , CM000663.1:g.94512765G=	GRCh37
NC_000001.9:g.94285353G=	NCBI36
NG_009073.1:g.78941C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2744-116C= MANE Select	ENSP00000359245.3:n.2744-116C=
ENST00000649773.1:c.2522-116C=	ENSP00000496882.1:n.2522-116C=
ENST00000370225.3:c.2744-116C=	ENSP00000359245.3:n.2744-116C=
ENST00000536513.5:c.-64-7120C=	ENSP00000439707.2:n.-64-7120C=
NM_000350.2:c.2744-116C=	NP_000341.2:n.2744-116C=
NM_000350.3:c.2744-116C= MANE Select	NP_000341.2:n.2744-116C=