Canonical Allele Identifier: CA1181398713

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001978A= , CM000663.2:g.94001978A=	GRCh38
NC_000001.10:g.94467534A= , CM000663.1:g.94467534A=	GRCh37
NC_000001.9:g.94240122A=	NCBI36
NG_009073.1:g.124172T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6162T= MANE Select	ENSP00000359245.3:p.Ser2054=
ENST00000370225.3:c.6162T=	ENSP00000359245.3:p.Ser2054=
ENST00000465352.1:n.578T=
ENST00000536513.5:c.2538T=	ENSP00000439707.2:p.Ser846=
NM_000350.2:c.6162T=	NP_000341.2:p.Ser2054=
NM_000350.3:c.6162T= MANE Select	NP_000341.2:p.Ser2054=