Canonical Allele Identifier: CA1181408373

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021479G= , CM000663.2:g.94021479G=	GRCh38
NC_000001.10:g.94487035G= , CM000663.1:g.94487035G=	GRCh37
NC_000001.9:g.94259623G=	NCBI36
NG_009073.1:g.104671C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4849-70C= MANE Select	ENSP00000359245.3:n.4849-70C=
ENST00000370225.3:c.4849-70C=	ENSP00000359245.3:n.4849-70C=
ENST00000460514.1:n.343-70C=
ENST00000536513.5:c.1225-70C=	ENSP00000439707.2:n.1225-70C=
NM_000350.2:c.4849-70C=	NP_000341.2:n.4849-70C=
NM_000350.3:c.4849-70C= MANE Select	NP_000341.2:n.4849-70C=