Canonical Allele Identifier: CA1181395175

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997963C= , CM000663.2:g.93997963C=	GRCh38
NC_000001.10:g.94463519C= , CM000663.1:g.94463519C=	GRCh37
NC_000001.9:g.94236107C=	NCBI36
NG_009073.1:g.128187G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6627G= MANE Select	ENSP00000359245.3:p.Gln2209=
ENST00000370225.3:c.6627G=	ENSP00000359245.3:p.Gln2209=
ENST00000536513.5:c.3003G=	ENSP00000439707.2:p.Gln1001=
NM_000350.2:c.6627G=	NP_000341.2:p.Gln2209=
NM_000350.3:c.6627G= MANE Select	NP_000341.2:p.Gln2209=