Canonical Allele Identifier: CA1181415013

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030693A= , CM000663.2:g.94030693A=	GRCh38
NC_000001.10:g.94496249A= , CM000663.1:g.94496249A=	GRCh37
NC_000001.9:g.94268837A=	NCBI36
NG_009073.1:g.95457T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4254-167T= MANE Select	ENSP00000359245.3:n.4254-167T=
ENST00000370225.3:c.4254-167T=	ENSP00000359245.3:n.4254-167T=
ENST00000536513.5:c.630-167T=	ENSP00000439707.2:n.630-167T=
NM_000350.2:c.4254-167T=	NP_000341.2:n.4254-167T=
NM_000350.3:c.4254-167T= MANE Select	NP_000341.2:n.4254-167T=