Canonical Allele Identifier: CA341278351
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94467527T>C (hg19) chr1:g.94001971T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001971T>C , CM000663.2:g.94001971T>C GRCh38
NC_000001.10:g.94467527T>C , CM000663.1:g.94467527T>C GRCh37
NC_000001.9:g.94240115T>C NCBI36
NG_009073.1:g.124179A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6169A>G MANE Select ENSP00000359245.3:p.Ser2057Gly
ENST00000370225.3:c.6169A>G ENSP00000359245.3:p.Ser2057Gly
ENST00000465352.1:n.585A>G
ENST00000536513.5:c.2545A>G ENSP00000439707.2:p.Ser849Gly
NM_000350.2:c.6169A>G NP_000341.2:p.Ser2057Gly
NM_000350.3:c.6169A>G MANE Select NP_000341.2:p.Ser2057Gly
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