Canonical Allele Identifier: CA341284045
Gene: ABCA4 HGNC NCBI

Linked Data

COSMIC: COSM1134956
MyVariant Identifiers: chr1:g.94487493G>T (hg19) chr1:g.94021937G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021937G>T , CM000663.2:g.94021937G>T GRCh38
NC_000001.10:g.94487493G>T , CM000663.1:g.94487493G>T GRCh37
NC_000001.9:g.94260081G>T NCBI36
NG_009073.1:g.104213C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4682C>A MANE Select ENSP00000359245.3:p.Ser1561Tyr
ENST00000370225.3:c.4682C>A ENSP00000359245.3:p.Ser1561Tyr
ENST00000460514.1:n.176C>A
ENST00000536513.5:c.1058C>A ENSP00000439707.2:p.Ser353Tyr
NM_000350.2:c.4682C>A NP_000341.2:p.Ser1561Tyr
NM_000350.3:c.4682C>A MANE Select NP_000341.2:p.Ser1561Tyr
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