Canonical Allele Identifier: CA341285009
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94029539-A-T
MyVariant Identifiers: chr1:g.94495095A>T (hg19) chr1:g.94029539A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029539A>T , CM000663.2:g.94029539A>T GRCh38
NC_000001.10:g.94495095A>T , CM000663.1:g.94495095A>T GRCh37
NC_000001.9:g.94267683A>T NCBI36
NG_009073.1:g.96611T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4445T>A MANE Select ENSP00000359245.3:p.Val1482Asp
ENST00000370225.3:c.4445T>A ENSP00000359245.3:p.Val1482Asp
ENST00000536513.5:c.821T>A ENSP00000439707.2:p.Val274Asp
NM_000350.2:c.4445T>A NP_000341.2:p.Val1482Asp
NM_000350.3:c.4445T>A MANE Select NP_000341.2:p.Val1482Asp
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