Canonical Allele Identifier: CA1143432026

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93998094T= , CM000663.2:g.93998094T=	GRCh38
NC_000001.10:g.94463650T= , CM000663.1:g.94463650T=	GRCh37
NC_000001.9:g.94236238T=	NCBI36
NG_009073.1:g.128056A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6496A= MANE Select	ENSP00000359245.3:p.Ile2166=
ENST00000370225.3:c.6496A=	ENSP00000359245.3:p.Ile2166=
ENST00000536513.5:c.2872A=	ENSP00000439707.2:p.Ile958=
NM_000350.2:c.6496A=	NP_000341.2:p.Ile2166=
NM_000350.3:c.6496A= MANE Select	NP_000341.2:p.Ile2166=