Canonical Allele Identifier: CA1181407978

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011305G= , CM000663.2:g.94011305G=	GRCh38
NC_000001.10:g.94476861G= , CM000663.1:g.94476861G=	GRCh37
NC_000001.9:g.94249449G=	NCBI36
NG_009073.1:g.114845C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5541C= MANE Select	ENSP00000359245.3:p.Asp1847=
ENST00000370225.3:c.5541C=	ENSP00000359245.3:p.Asp1847=
ENST00000536513.5:c.1917C=	ENSP00000439707.2:p.Asp639=
NM_000350.2:c.5541C=	NP_000341.2:p.Asp1847=
NM_000350.3:c.5541C= MANE Select	NP_000341.2:p.Asp1847=