Canonical Allele Identifier: CA1181447821

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111549G= , CM000663.2:g.94111549G=	GRCh38
NC_000001.10:g.94577105G= , CM000663.1:g.94577105G=	GRCh37
NC_000001.9:g.94349693G=	NCBI36
NG_009073.1:g.14601C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.191C= MANE Select	ENSP00000359245.3:p.Ala64=
ENST00000649773.1:c.191C=	ENSP00000496882.1:p.Ala64=
ENST00000370225.3:c.191C=	ENSP00000359245.3:p.Ala64=
NM_000350.2:c.191C=	NP_000341.2:p.Ala64=
NM_000350.3:c.191C= MANE Select	NP_000341.2:p.Ala64=