Canonical Allele Identifier: CA1181398717

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001984G= , CM000663.2:g.94001984G=	GRCh38
NC_000001.10:g.94467540G= , CM000663.1:g.94467540G=	GRCh37
NC_000001.9:g.94240128G=	NCBI36
NG_009073.1:g.124166C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6156C= MANE Select	ENSP00000359245.3:p.Asn2052=
ENST00000370225.3:c.6156C=	ENSP00000359245.3:p.Asn2052=
ENST00000465352.1:n.572C=
ENST00000536513.5:c.2532C=	ENSP00000439707.2:p.Asn844=
NM_000350.2:c.6156C=	NP_000341.2:p.Asn2052=
NM_000350.3:c.6156C= MANE Select	NP_000341.2:p.Asn2052=