Canonical Allele Identifier: CA1181398540

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001887G= , CM000663.2:g.94001887G=	GRCh38
NC_000001.10:g.94467443G= , CM000663.1:g.94467443G=	GRCh37
NC_000001.9:g.94240031G=	NCBI36
NG_009073.1:g.124263C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.6253C= MANE Select	ENSP00000359245.3:p.Leu2085=
ENST00000370225.3:c.6253C=	ENSP00000359245.3:p.Leu2085=
ENST00000465352.1:n.669C=
ENST00000536513.5:c.2629C=	ENSP00000439707.2:p.Leu877=
NM_000350.2:c.6253C=	NP_000341.2:p.Leu2085=
NM_000350.3:c.6253C= MANE Select	NP_000341.2:p.Leu2085=