Canonical Allele Identifier: CA1181426511

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056753T= , CM000663.2:g.94056753T=	GRCh38
NC_000001.10:g.94522309T= , CM000663.1:g.94522309T=	GRCh37
NC_000001.9:g.94294897T=	NCBI36
NG_009073.1:g.69397A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2230A= MANE Select	ENSP00000359245.3:p.Thr744=
ENST00000649773.1:c.2161-1438A=	ENSP00000496882.1:n.2161-1438A=
ENST00000370225.3:c.2230A=	ENSP00000359245.3:p.Thr744=
ENST00000536513.5:c.-65+6421A=	ENSP00000439707.2:n.-65+6421A=
NM_000350.2:c.2230A=	NP_000341.2:p.Thr744=
NM_000350.3:c.2230A= MANE Select	NP_000341.2:p.Thr744=