Canonical Allele Identifier: CA418821856

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94487265A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021709A>T , CM000663.2:g.94021709A>T	GRCh38
NC_000001.10:g.94487265A>T , CM000663.1:g.94487265A>T	GRCh37
NC_000001.9:g.94259853A>T	NCBI36
NG_009073.1:g.104441T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4779T>A MANE Select	ENSP00000359245.3:p.Pro1593=
ENST00000370225.3:c.4779T>A	ENSP00000359245.3:p.Pro1593=
ENST00000460514.1:n.273T>A
ENST00000536513.5:c.1155T>A	ENSP00000439707.2:p.Pro385=
NM_000350.2:c.4779T>A	NP_000341.2:p.Pro1593=
NM_000350.3:c.4779T>A MANE Select	NP_000341.2:p.Pro1593=