Canonical Allele Identifier: CA418811527
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94046957-T-A
MyVariant Identifiers: chr1:g.94512513T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046957T>A , CM000663.2:g.94046957T>A GRCh38
NC_000001.10:g.94512513T>A , CM000663.1:g.94512513T>A GRCh37
NC_000001.9:g.94285101T>A NCBI36
NG_009073.1:g.79193A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2880A>T MANE Select ENSP00000359245.3:p.Ala960=
ENST00000649773.1:c.2658A>T ENSP00000496882.1:p.Ala886=
ENST00000370225.3:c.2880A>T ENSP00000359245.3:p.Ala960=
ENST00000536513.5:c.-64-6868A>T ENSP00000439707.2:n.-64-6868A>T
NM_000350.2:c.2880A>T NP_000341.2:p.Ala960=
NM_000350.3:c.2880A>T MANE Select NP_000341.2:p.Ala960=
Search 100 bp 5'
Search 100 bp 3'