Canonical Allele Identifier: CA1147723883

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060651C= , CM000663.2:g.94060651C=	GRCh38
NC_000001.10:g.94526207C= , CM000663.1:g.94526207C=	GRCh37
NC_000001.9:g.94298795C=	NCBI36
NG_009073.1:g.65499G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2046G= MANE Select	ENSP00000359245.3:p.Leu682=
ENST00000649773.1:c.2046G=	ENSP00000496882.1:p.Leu682=
ENST00000370225.3:c.2046G=	ENSP00000359245.3:p.Leu682=
ENST00000472033.1:n.166G=
ENST00000536513.5:c.-65+2523G=	ENSP00000439707.2:n.-65+2523G=
NM_000350.2:c.2046G=	NP_000341.2:p.Leu682=
NM_000350.3:c.2046G= MANE Select	NP_000341.2:p.Leu682=