Canonical Allele Identifier: CA1181398375

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001698A= , CM000663.2:g.94001698A=	GRCh38
NC_000001.10:g.94467254A= , CM000663.1:g.94467254A=	GRCh37
NC_000001.9:g.94239842A=	NCBI36
NG_009073.1:g.124452T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.6282+160T= MANE Select	ENSP00000359245.3:n.6282+160T=
ENST00000370225.3:c.6282+160T=	ENSP00000359245.3:n.6282+160T=
ENST00000465352.1:n.858T=
ENST00000536513.5:c.2658+160T=	ENSP00000439707.2:n.2658+160T=
NM_000350.2:c.6282+160T=	NP_000341.2:n.6282+160T=
NM_000350.3:c.6282+160T= MANE Select	NP_000341.2:n.6282+160T=