Canonical Allele Identifier: CA1181418825

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062641G= , CM000663.2:g.94062641G=	GRCh38
NC_000001.10:g.94528197G= , CM000663.1:g.94528197G=	GRCh37
NC_000001.9:g.94300785G=	NCBI36
NG_009073.1:g.63509C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1873C= MANE Select	ENSP00000359245.3:p.Gln625=
ENST00000649773.1:c.1873C=	ENSP00000496882.1:p.Gln625=
ENST00000370225.3:c.1873C=	ENSP00000359245.3:p.Gln625=
ENST00000536513.5:c.-65+533C=	ENSP00000439707.2:n.-65+533C=
NM_000350.2:c.1873C=	NP_000341.2:p.Gln625=
NM_000350.3:c.1873C= MANE Select	NP_000341.2:p.Gln625=