Canonical Allele Identifier: CA1181408269

Gene: ABCA4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021398A= , CM000663.2:g.94021398A=	GRCh38
NC_000001.10:g.94486954A= , CM000663.1:g.94486954A=	GRCh37
NC_000001.9:g.94259542A=	NCBI36
NG_009073.1:g.104752T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4860T= MANE Select	ENSP00000359245.3:p.Asn1620=
ENST00000370225.3:c.4860T=	ENSP00000359245.3:p.Asn1620=
ENST00000460514.1:n.354T=
ENST00000536513.5:c.1236T=	ENSP00000439707.2:p.Asn412=
NM_000350.2:c.4860T=	NP_000341.2:p.Asn1620=
NM_000350.3:c.4860T= MANE Select	NP_000341.2:p.Asn1620=