Canonical Allele Identifier: CA1181418845

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062681C= , CM000663.2:g.94062681C=	GRCh38
NC_000001.10:g.94528237C= , CM000663.1:g.94528237C=	GRCh37
NC_000001.9:g.94300825C=	NCBI36
NG_009073.1:g.63469G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.1833G= MANE Select	ENSP00000359245.3:p.Leu611=
ENST00000649773.1:c.1833G=	ENSP00000496882.1:p.Leu611=
ENST00000370225.3:c.1833G=	ENSP00000359245.3:p.Leu611=
ENST00000536513.5:c.-65+493G=	ENSP00000439707.2:n.-65+493G=
NM_000350.2:c.1833G=	NP_000341.2:p.Leu611=
NM_000350.3:c.1833G= MANE Select	NP_000341.2:p.Leu611=