Canonical Allele Identifier: CA1181414941

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030509C= , CM000663.2:g.94030509C=	GRCh38
NC_000001.10:g.94496065C= , CM000663.1:g.94496065C=	GRCh37
NC_000001.9:g.94268653C=	NCBI36
NG_009073.1:g.95641G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4271G= MANE Select	ENSP00000359245.3:p.Ser1424=
ENST00000370225.3:c.4271G=	ENSP00000359245.3:p.Ser1424=
ENST00000536513.5:c.647G=	ENSP00000439707.2:p.Ser216=
NM_000350.2:c.4271G=	NP_000341.2:p.Ser1424=
NM_000350.3:c.4271G= MANE Select	NP_000341.2:p.Ser1424=