Canonical Allele Identifier: CA341283125
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94486911G>A (hg19) chr1:g.94021355G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021355G>A , CM000663.2:g.94021355G>A GRCh38
NC_000001.10:g.94486911G>A , CM000663.1:g.94486911G>A GRCh37
NC_000001.9:g.94259499G>A NCBI36
NG_009073.1:g.104795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4903C>T MANE Select ENSP00000359245.3:p.His1635Tyr
ENST00000370225.3:c.4903C>T ENSP00000359245.3:p.His1635Tyr
ENST00000460514.1:n.397C>T
ENST00000470771.1:n.13C>T
ENST00000536513.5:c.1279C>T ENSP00000439707.2:p.His427Tyr
NM_000350.2:c.4903C>T NP_000341.2:p.His1635Tyr
NM_000350.3:c.4903C>T MANE Select NP_000341.2:p.His1635Tyr
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