Canonical Allele Identifier: CA1181422674
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs773946808
gnomAD v4: 1-94047127-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047127T>A , CM000663.2:g.94047127T>A GRCh38
NC_000001.10:g.94512683T>A , CM000663.1:g.94512683T>A GRCh37
NC_000001.9:g.94285271T>A NCBI36
NG_009073.1:g.79023A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-34A>T MANE Select ENSP00000359245.3:n.2744-34A>T
ENST00000649773.1:c.2522-34A>T ENSP00000496882.1:n.2522-34A>T
ENST00000370225.3:c.2744-34A>T ENSP00000359245.3:n.2744-34A>T
ENST00000536513.5:c.-64-7038A>T ENSP00000439707.2:n.-64-7038A>T
NM_000350.2:c.2744-34A>T NP_000341.2:n.2744-34A>T
NM_000350.3:c.2744-34A>T MANE Select NP_000341.2:n.2744-34A>T
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