Canonical Allele Identifier: CA740506920
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1165624497
MyVariant Identifiers: chr1:g.94481162A>T (hg19) chr1:g.94015606A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015606A>T , CM000663.2:g.94015606A>T GRCh38
NC_000001.10:g.94481162A>T , CM000663.1:g.94481162A>T GRCh37
NC_000001.9:g.94253750A>T NCBI36
NG_009073.1:g.110544T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5312+133T>A MANE Select ENSP00000359245.3:n.5312+133T>A
ENST00000370225.3:c.5312+133T>A ENSP00000359245.3:n.5312+133T>A
ENST00000536513.5:c.1688+133T>A ENSP00000439707.2:n.1688+133T>A
NM_000350.2:c.5312+133T>A NP_000341.2:n.5312+133T>A
NM_000350.3:c.5312+133T>A MANE Select NP_000341.2:n.5312+133T>A
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