Canonical Allele Identifier: CA1181395108

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997928A= , CM000663.2:g.93997928A=	GRCh38
NC_000001.10:g.94463484A= , CM000663.1:g.94463484A=	GRCh37
NC_000001.9:g.94236072A=	NCBI36
NG_009073.1:g.128222T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6662T= MANE Select	ENSP00000359245.3:p.Leu2221=
ENST00000370225.3:c.6662T=	ENSP00000359245.3:p.Leu2221=
ENST00000536513.5:c.3038T=	ENSP00000439707.2:p.Leu1013=
NM_000350.2:c.6662T=	NP_000341.2:p.Leu2221=
NM_000350.3:c.6662T= MANE Select	NP_000341.2:p.Leu2221=