Canonical Allele Identifier: CA1181408643

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021711G= , CM000663.2:g.94021711G=	GRCh38
NC_000001.10:g.94487267G= , CM000663.1:g.94487267G=	GRCh37
NC_000001.9:g.94259855G=	NCBI36
NG_009073.1:g.104439C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4777C= MANE Select	ENSP00000359245.3:p.Pro1593=
ENST00000370225.3:c.4777C=	ENSP00000359245.3:p.Pro1593=
ENST00000460514.1:n.271C=
ENST00000536513.5:c.1153C=	ENSP00000439707.2:p.Pro385=
NM_000350.2:c.4777C=	NP_000341.2:p.Pro1593=
NM_000350.3:c.4777C= MANE Select	NP_000341.2:p.Pro1593=