Canonical Allele Identifier: CA1181398628

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001929A= , CM000663.2:g.94001929A=	GRCh38
NC_000001.10:g.94467485A= , CM000663.1:g.94467485A=	GRCh37
NC_000001.9:g.94240073A=	NCBI36
NG_009073.1:g.124221T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6211T= MANE Select	ENSP00000359245.3:p.Tyr2071=
ENST00000370225.3:c.6211T=	ENSP00000359245.3:p.Tyr2071=
ENST00000465352.1:n.627T=
ENST00000536513.5:c.2587T=	ENSP00000439707.2:p.Tyr863=
NM_000350.2:c.6211T=	NP_000341.2:p.Tyr2071=
NM_000350.3:c.6211T= MANE Select	NP_000341.2:p.Tyr2071=