Canonical Allele Identifier: CA1181398687

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94001956C= , CM000663.2:g.94001956C=	GRCh38
NC_000001.10:g.94467512C= , CM000663.1:g.94467512C=	GRCh37
NC_000001.9:g.94240100C=	NCBI36
NG_009073.1:g.124194G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6184G= MANE Select	ENSP00000359245.3:p.Val2062=
ENST00000370225.3:c.6184G=	ENSP00000359245.3:p.Val2062=
ENST00000465352.1:n.600G=
ENST00000536513.5:c.2560G=	ENSP00000439707.2:p.Val854=
NM_000350.2:c.6184G=	NP_000341.2:p.Val2062=
NM_000350.3:c.6184G= MANE Select	NP_000341.2:p.Val2062=