Canonical Allele Identifier: CA1181415441

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94031828C= , CM000663.2:g.94031828C=	GRCh38
NC_000001.10:g.94497384C= , CM000663.1:g.94497384C=	GRCh37
NC_000001.9:g.94269972C=	NCBI36
NG_009073.1:g.94322G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4078G= MANE Select	ENSP00000359245.3:p.Val1360=
ENST00000370225.3:c.4078G=	ENSP00000359245.3:p.Val1360=
ENST00000536513.5:c.454G=	ENSP00000439707.2:p.Val152=
NM_000350.2:c.4078G=	NP_000341.2:p.Val1360=
NM_000350.3:c.4078G= MANE Select	NP_000341.2:p.Val1360=