Canonical Allele Identifier: CA1139894812

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030497G= , CM000663.2:g.94030497G=	GRCh38
NC_000001.10:g.94496053G= , CM000663.1:g.94496053G=	GRCh37
NC_000001.9:g.94268641G=	NCBI36
NG_009073.1:g.95653C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4283C= MANE Select	ENSP00000359245.3:p.Thr1428=
ENST00000370225.3:c.4283C=	ENSP00000359245.3:p.Thr1428=
ENST00000536513.5:c.659C=	ENSP00000439707.2:p.Thr220=
NM_000350.2:c.4283C=	NP_000341.2:p.Thr1428=
NM_000350.3:c.4283C= MANE Select	NP_000341.2:p.Thr1428=