Canonical Allele Identifier: CA341284842
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94029486-G-T
MyVariant Identifiers: chr1:g.94495042G>T (hg19) chr1:g.94029486G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029486G>T , CM000663.2:g.94029486G>T GRCh38
NC_000001.10:g.94495042G>T , CM000663.1:g.94495042G>T GRCh37
NC_000001.9:g.94267630G>T NCBI36
NG_009073.1:g.96664C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4498C>A MANE Select ENSP00000359245.3:p.Pro1500Thr
ENST00000370225.3:c.4498C>A ENSP00000359245.3:p.Pro1500Thr
ENST00000536513.5:c.874C>A ENSP00000439707.2:p.Pro292Thr
NM_000350.2:c.4498C>A NP_000341.2:p.Pro1500Thr
NM_000350.3:c.4498C>A MANE Select NP_000341.2:p.Pro1500Thr
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