Canonical Allele Identifier: CA341284837
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94495041G>T (hg19) chr1:g.94029485G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029485G>T , CM000663.2:g.94029485G>T GRCh38
NC_000001.10:g.94495041G>T , CM000663.1:g.94495041G>T GRCh37
NC_000001.9:g.94267629G>T NCBI36
NG_009073.1:g.96665C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4499C>A MANE Select ENSP00000359245.3:p.Pro1500Gln
ENST00000370225.3:c.4499C>A ENSP00000359245.3:p.Pro1500Gln
ENST00000536513.5:c.875C>A ENSP00000439707.2:p.Pro292Gln
NM_000350.2:c.4499C>A NP_000341.2:p.Pro1500Gln
NM_000350.3:c.4499C>A MANE Select NP_000341.2:p.Pro1500Gln
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