Canonical Allele Identifier: CA1181426433

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94056566G= , CM000663.2:g.94056566G=	GRCh38
NC_000001.10:g.94522122G= , CM000663.1:g.94522122G=	GRCh37
NC_000001.9:g.94294710G=	NCBI36
NG_009073.1:g.69584C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.2382+35C= MANE Select	ENSP00000359245.3:n.2382+35C=
ENST00000649773.1:c.2161-1251C=	ENSP00000496882.1:n.2161-1251C=
ENST00000370225.3:c.2382+35C=	ENSP00000359245.3:n.2382+35C=
ENST00000536513.5:c.-65+6608C=	ENSP00000439707.2:n.-65+6608C=
NM_000350.2:c.2382+35C=	NP_000341.2:n.2382+35C=
NM_000350.3:c.2382+35C= MANE Select	NP_000341.2:n.2382+35C=