Canonical Allele Identifier: CA418806801
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94461674T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996118T>A , CM000663.2:g.93996118T>A GRCh38
NC_000001.10:g.94461674T>A , CM000663.1:g.94461674T>A GRCh37
NC_000001.9:g.94234262T>A NCBI36
NG_009073.1:g.130032A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6807A>T MANE Select ENSP00000359245.3:p.Arg2269=
ENST00000370225.3:c.6807A>T ENSP00000359245.3:p.Arg2269=
ENST00000536513.5:c.3183A>T ENSP00000439707.2:p.Arg1061=
NM_000350.2:c.6807A>T NP_000341.2:p.Arg2269=
NM_000350.3:c.6807A>T MANE Select NP_000341.2:p.Arg2269=
Search 100 bp 5'
Search 100 bp 3'