Canonical Allele Identifier: CA1181420135

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94041571A= , CM000663.2:g.94041571A=	GRCh38
NC_000001.10:g.94507127A= , CM000663.1:g.94507127A=	GRCh37
NC_000001.9:g.94279715A=	NCBI36
NG_009073.1:g.84579T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3329-169T= MANE Select	ENSP00000359245.3:n.3329-169T=
ENST00000370225.3:c.3329-169T=	ENSP00000359245.3:n.3329-169T=
ENST00000536513.5:c.-64-1482T=	ENSP00000439707.2:n.-64-1482T=
NM_000350.2:c.3329-169T=	NP_000341.2:n.3329-169T=
NM_000350.3:c.3329-169T= MANE Select	NP_000341.2:n.3329-169T=