Canonical Allele Identifier: CA1181428112

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94060804T= , CM000663.2:g.94060804T=	GRCh38
NC_000001.10:g.94526360T= , CM000663.1:g.94526360T=	GRCh37
NC_000001.9:g.94298948T=	NCBI36
NG_009073.1:g.65346A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1938-45A= MANE Select	ENSP00000359245.3:n.1938-45A=
ENST00000649773.1:c.1938-45A=	ENSP00000496882.1:n.1938-45A=
ENST00000370225.3:c.1938-45A=	ENSP00000359245.3:n.1938-45A=
ENST00000472033.1:n.58-45A=
ENST00000536513.5:c.-65+2370A=	ENSP00000439707.2:n.-65+2370A=
NM_000350.2:c.1938-45A=	NP_000341.2:n.1938-45A=
NM_000350.3:c.1938-45A= MANE Select	NP_000341.2:n.1938-45A=