Canonical Allele Identifier: CA1181408648

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021712G= , CM000663.2:g.94021712G=	GRCh38
NC_000001.10:g.94487268G= , CM000663.1:g.94487268G=	GRCh37
NC_000001.9:g.94259856G=	NCBI36
NG_009073.1:g.104438C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4776C= MANE Select	ENSP00000359245.3:p.Gly1592=
ENST00000370225.3:c.4776C=	ENSP00000359245.3:p.Gly1592=
ENST00000460514.1:n.270C=
ENST00000536513.5:c.1152C=	ENSP00000439707.2:p.Gly384=
NM_000350.2:c.4776C=	NP_000341.2:p.Gly1592=
NM_000350.3:c.4776C= MANE Select	NP_000341.2:p.Gly1592=