Canonical Allele Identifier: CA1141301735

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94007597G= , CM000663.2:g.94007597G=	GRCh38
NC_000001.10:g.94473153G= , CM000663.1:g.94473153G=	GRCh37
NC_000001.9:g.94245741G=	NCBI36
NG_009073.1:g.118553C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6005+37C= MANE Select	ENSP00000359245.3:n.6005+37C=
ENST00000370225.3:c.6005+37C=	ENSP00000359245.3:n.6005+37C=
ENST00000465352.1:n.421+37C=
ENST00000484388.1:n.119+37C=
ENST00000536513.5:c.2381+37C=	ENSP00000439707.2:n.2381+37C=
NM_000350.2:c.6005+37C=	NP_000341.2:n.6005+37C=
NM_000350.3:c.6005+37C= MANE Select	NP_000341.2:n.6005+37C=