Canonical Allele Identifier: CA1142169575

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94029467G= , CM000663.2:g.94029467G=	GRCh38
NC_000001.10:g.94495023G= , CM000663.1:g.94495023G=	GRCh37
NC_000001.9:g.94267611G=	NCBI36
NG_009073.1:g.96683C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4517C= MANE Select	ENSP00000359245.3:p.Ala1506=
ENST00000370225.3:c.4517C=	ENSP00000359245.3:p.Ala1506=
ENST00000536513.5:c.893C=	ENSP00000439707.2:p.Ala298=
NM_000350.2:c.4517C=	NP_000341.2:p.Ala1506=
NM_000350.3:c.4517C= MANE Select	NP_000341.2:p.Ala1506=