Canonical Allele Identifier: CA1181402699

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94007567C= , CM000663.2:g.94007567C=	GRCh38
NC_000001.10:g.94473123C= , CM000663.1:g.94473123C=	GRCh37
NC_000001.9:g.94245711C=	NCBI36
NG_009073.1:g.118583G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6005+67G= MANE Select	ENSP00000359245.3:n.6005+67G=
ENST00000370225.3:c.6005+67G=	ENSP00000359245.3:n.6005+67G=
ENST00000465352.1:n.421+67G=
ENST00000484388.1:n.119+67G=
ENST00000536513.5:c.2381+67G=	ENSP00000439707.2:n.2381+67G=
NM_000350.2:c.6005+67G=	NP_000341.2:n.6005+67G=
NM_000350.3:c.6005+67G= MANE Select	NP_000341.2:n.6005+67G=