Canonical Allele Identifier: CA1181420872

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043350G= , CM000663.2:g.94043350G=	GRCh38
NC_000001.10:g.94508906G= , CM000663.1:g.94508906G=	GRCh37
NC_000001.9:g.94281494G=	NCBI36
NG_009073.1:g.82800C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3176C= MANE Select	ENSP00000359245.3:p.Ala1059=
ENST00000370225.3:c.3176C=	ENSP00000359245.3:p.Ala1059=
ENST00000536513.5:c.-64-3261C=	ENSP00000439707.2:n.-64-3261C=
NM_000350.2:c.3176C=	NP_000341.2:p.Ala1059=
NM_000350.3:c.3176C= MANE Select	NP_000341.2:p.Ala1059=