Canonical Allele Identifier: CA1181408544
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021654C= , CM000663.2:g.94021654C= GRCh38
NC_000001.10:g.94487210C= , CM000663.1:g.94487210C= GRCh37
NC_000001.9:g.94259798C= NCBI36
NG_009073.1:g.104496G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4834G= MANE Select ENSP00000359245.3:p.Glu1612=
ENST00000370225.3:c.4834G= ENSP00000359245.3:p.Glu1612=
ENST00000460514.1:n.328G=
ENST00000536513.5:c.1210G= ENSP00000439707.2:p.Glu404=
NM_000350.2:c.4834G= NP_000341.2:p.Glu1612=
NM_000350.3:c.4834G= MANE Select NP_000341.2:p.Glu1612=
Search 100 bp 5'
Search 100 bp 3'