Canonical Allele Identifier: CA418821725
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486894C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021338C>A , CM000663.2:g.94021338C>A GRCh38
NC_000001.10:g.94486894C>A , CM000663.1:g.94486894C>A GRCh37
NC_000001.9:g.94259482C>A NCBI36
NG_009073.1:g.104812G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4920G>T MANE Select ENSP00000359245.3:p.Arg1640=
ENST00000370225.3:c.4920G>T ENSP00000359245.3:p.Arg1640=
ENST00000460514.1:n.414G>T
ENST00000470771.1:n.30G>T
ENST00000536513.5:c.1296G>T ENSP00000439707.2:p.Arg432=
NM_000350.2:c.4920G>T NP_000341.2:p.Arg1640=
NM_000350.3:c.4920G>T MANE Select NP_000341.2:p.Arg1640=
Search 100 bp 5'
Search 100 bp 3'