Canonical Allele Identifier: CA418808130
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94463435T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997879T>G , CM000663.2:g.93997879T>G GRCh38
NC_000001.10:g.94463435T>G , CM000663.1:g.94463435T>G GRCh37
NC_000001.9:g.94236023T>G NCBI36
NG_009073.1:g.128271A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6711A>C MANE Select ENSP00000359245.3:p.Thr2237=
ENST00000370225.3:c.6711A>C ENSP00000359245.3:p.Thr2237=
ENST00000536513.5:c.3087A>C ENSP00000439707.2:p.Thr1029=
NM_000350.2:c.6711A>C NP_000341.2:p.Thr2237=
NM_000350.3:c.6711A>C MANE Select NP_000341.2:p.Thr2237=
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