Canonical Allele Identifier: CA1181397675

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001012T= , CM000663.2:g.94001012T=	GRCh38
NC_000001.10:g.94466568T= , CM000663.1:g.94466568T=	GRCh37
NC_000001.9:g.94239156T=	NCBI36
NG_009073.1:g.125138A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6376A= MANE Select	ENSP00000359245.3:p.Thr2126=
ENST00000370225.3:c.6376A=	ENSP00000359245.3:p.Thr2126=
ENST00000536513.5:c.2752A=	ENSP00000439707.2:p.Thr918=
NM_000350.2:c.6376A=	NP_000341.2:p.Thr2126=
NM_000350.3:c.6376A= MANE Select	NP_000341.2:p.Thr2126=