Canonical Allele Identifier: CA1181428814

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062454G= , CM000663.2:g.94062454G=	GRCh38
NC_000001.10:g.94528010G= , CM000663.1:g.94528010G=	GRCh37
NC_000001.9:g.94300598G=	NCBI36
NG_009073.1:g.63696C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.1937+123C= MANE Select	ENSP00000359245.3:n.1937+123C=
ENST00000649773.1:c.1937+123C=	ENSP00000496882.1:n.1937+123C=
ENST00000370225.3:c.1937+123C=	ENSP00000359245.3:n.1937+123C=
ENST00000536513.5:c.-65+720C=	ENSP00000439707.2:n.-65+720C=
NM_000350.2:c.1937+123C=	NP_000341.2:n.1937+123C=
NM_000350.3:c.1937+123C= MANE Select	NP_000341.2:n.1937+123C=