Canonical Allele Identifier: CA1181447794

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94111465C= , CM000663.2:g.94111465C=	GRCh38
NC_000001.10:g.94577021C= , CM000663.1:g.94577021C=	GRCh37
NC_000001.9:g.94349609C=	NCBI36
NG_009073.1:g.14685G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.275G= MANE Select	ENSP00000359245.3:p.Gly92=
ENST00000649773.1:c.275G=	ENSP00000496882.1:p.Gly92=
ENST00000370225.3:c.275G=	ENSP00000359245.3:p.Gly92=
NM_000350.2:c.275G=	NP_000341.2:p.Gly92=
NM_000350.3:c.275G= MANE Select	NP_000341.2:p.Gly92=