Canonical Allele Identifier: CA1181407852

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94011223C= , CM000663.2:g.94011223C=	GRCh38
NC_000001.10:g.94476779C= , CM000663.1:g.94476779C=	GRCh37
NC_000001.9:g.94249367C=	NCBI36
NG_009073.1:g.114927G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.5584+39G= MANE Select	ENSP00000359245.3:n.5584+39G=
ENST00000370225.3:c.5584+39G=	ENSP00000359245.3:n.5584+39G=
ENST00000536513.5:c.1960+39G=	ENSP00000439707.2:n.1960+39G=
NM_000350.2:c.5584+39G=	NP_000341.2:n.5584+39G=
NM_000350.3:c.5584+39G= MANE Select	NP_000341.2:n.5584+39G=