Canonical Allele Identifier: CA1181408626

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021703A= , CM000663.2:g.94021703A=	GRCh38
NC_000001.10:g.94487259A= , CM000663.1:g.94487259A=	GRCh37
NC_000001.9:g.94259847A=	NCBI36
NG_009073.1:g.104447T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4785T= MANE Select	ENSP00000359245.3:p.Thr1595=
ENST00000370225.3:c.4785T=	ENSP00000359245.3:p.Thr1595=
ENST00000460514.1:n.279T=
ENST00000536513.5:c.1161T=	ENSP00000439707.2:p.Thr387=
NM_000350.2:c.4785T=	NP_000341.2:p.Thr1595=
NM_000350.3:c.4785T= MANE Select	NP_000341.2:p.Thr1595=