Canonical Allele Identifier: CA1147388611

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021850C= , CM000663.2:g.94021850C=	GRCh38
NC_000001.10:g.94487406C= , CM000663.1:g.94487406C=	GRCh37
NC_000001.9:g.94259994C=	NCBI36
NG_009073.1:g.104300G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4769G= MANE Select	ENSP00000359245.3:p.Ser1590=
ENST00000370225.3:c.4769G=	ENSP00000359245.3:p.Ser1590=
ENST00000460514.1:n.263G=
ENST00000536513.5:c.1145G=	ENSP00000439707.2:p.Ser382=
NM_000350.2:c.4769G=	NP_000341.2:p.Ser1590=
NM_000350.3:c.4769G= MANE Select	NP_000341.2:p.Ser1590=