Canonical Allele Identifier: CA1181420928

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043540C= , CM000663.2:g.94043540C=	GRCh38
NC_000001.10:g.94509096C= , CM000663.1:g.94509096C=	GRCh37
NC_000001.9:g.94281684C=	NCBI36
NG_009073.1:g.82610G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3051-65G= MANE Select	ENSP00000359245.3:n.3051-65G=
ENST00000370225.3:c.3051-65G=	ENSP00000359245.3:n.3051-65G=
ENST00000536513.5:c.-64-3451G=	ENSP00000439707.2:n.-64-3451G=
NM_000350.2:c.3051-65G=	NP_000341.2:n.3051-65G=
NM_000350.3:c.3051-65G= MANE Select	NP_000341.2:n.3051-65G=