Canonical Allele Identifier: CA1181397669

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001008G= , CM000663.2:g.94001008G=	GRCh38
NC_000001.10:g.94466564G= , CM000663.1:g.94466564G=	GRCh37
NC_000001.9:g.94239152G=	NCBI36
NG_009073.1:g.125142C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6380C= MANE Select	ENSP00000359245.3:p.Ser2127=
ENST00000370225.3:c.6380C=	ENSP00000359245.3:p.Ser2127=
ENST00000536513.5:c.2756C=	ENSP00000439707.2:p.Ser919=
NM_000350.2:c.6380C=	NP_000341.2:p.Ser2127=
NM_000350.3:c.6380C= MANE Select	NP_000341.2:p.Ser2127=