Canonical Allele Identifier: CA1145883768

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062577G= , CM000663.2:g.94062577G=	GRCh38
NC_000001.10:g.94528133G= , CM000663.1:g.94528133G=	GRCh37
NC_000001.9:g.94300721G=	NCBI36
NG_009073.1:g.63573C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1937C= MANE Select	ENSP00000359245.3:p.Ser646=
ENST00000649773.1:c.1937C=	ENSP00000496882.1:p.Ser646=
ENST00000370225.3:c.1937C=	ENSP00000359245.3:p.Ser646=
ENST00000536513.5:c.-65+597C=	ENSP00000439707.2:n.-65+597C=
NM_000350.2:c.1937C=	NP_000341.2:p.Ser646=
NM_000350.3:c.1937C= MANE Select	NP_000341.2:p.Ser646=