Canonical Allele Identifier: CA1181398651

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001945G= , CM000663.2:g.94001945G=	GRCh38
NC_000001.10:g.94467501G= , CM000663.1:g.94467501G=	GRCh37
NC_000001.9:g.94240089G=	NCBI36
NG_009073.1:g.124205C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6195C= MANE Select	ENSP00000359245.3:p.Asp2065=
ENST00000370225.3:c.6195C=	ENSP00000359245.3:p.Asp2065=
ENST00000465352.1:n.611C=
ENST00000536513.5:c.2571C=	ENSP00000439707.2:p.Asp857=
NM_000350.2:c.6195C=	NP_000341.2:p.Asp2065=
NM_000350.3:c.6195C= MANE Select	NP_000341.2:p.Asp2065=