Canonical Allele Identifier: CA1141801264

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043612T= , CM000663.2:g.94043612T=	GRCh38
NC_000001.10:g.94509168T= , CM000663.1:g.94509168T=	GRCh37
NC_000001.9:g.94281756T=	NCBI36
NG_009073.1:g.82538A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-137A= MANE Select	ENSP00000359245.3:n.3051-137A=
ENST00000370225.3:c.3051-137A=	ENSP00000359245.3:n.3051-137A=
ENST00000536513.5:c.-64-3523A=	ENSP00000439707.2:n.-64-3523A=
NM_000350.2:c.3051-137A=	NP_000341.2:n.3051-137A=
NM_000350.3:c.3051-137A= MANE Select	NP_000341.2:n.3051-137A=