Canonical Allele Identifier: CA1181418847

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94062684A= , CM000663.2:g.94062684A=	GRCh38
NC_000001.10:g.94528240A= , CM000663.1:g.94528240A=	GRCh37
NC_000001.9:g.94300828A=	NCBI36
NG_009073.1:g.63466T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1830T= MANE Select	ENSP00000359245.3:p.Tyr610=
ENST00000649773.1:c.1830T=	ENSP00000496882.1:p.Tyr610=
ENST00000370225.3:c.1830T=	ENSP00000359245.3:p.Tyr610=
ENST00000536513.5:c.-65+490T=	ENSP00000439707.2:n.-65+490T=
NM_000350.2:c.1830T=	NP_000341.2:p.Tyr610=
NM_000350.3:c.1830T= MANE Select	NP_000341.2:p.Tyr610=