Canonical Allele Identifier: CA1181418863

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062742G= , CM000663.2:g.94062742G=	GRCh38
NC_000001.10:g.94528298G= , CM000663.1:g.94528298G=	GRCh37
NC_000001.9:g.94300886G=	NCBI36
NG_009073.1:g.63408C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1772C= MANE Select	ENSP00000359245.3:p.Ser591=
ENST00000649773.1:c.1772C=	ENSP00000496882.1:p.Ser591=
ENST00000370225.3:c.1772C=	ENSP00000359245.3:p.Ser591=
ENST00000536513.5:c.-65+432C=	ENSP00000439707.2:n.-65+432C=
NM_000350.2:c.1772C=	NP_000341.2:p.Ser591=
NM_000350.3:c.1772C= MANE Select	NP_000341.2:p.Ser591=