Canonical Allele Identifier: CA341281073
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94476871C>G (hg19) chr1:g.94011315C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011315C>G , CM000663.2:g.94011315C>G GRCh38
NC_000001.10:g.94476871C>G , CM000663.1:g.94476871C>G GRCh37
NC_000001.9:g.94249459C>G NCBI36
NG_009073.1:g.114835G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5531G>C MANE Select ENSP00000359245.3:p.Gly1844Ala
ENST00000370225.3:c.5531G>C ENSP00000359245.3:p.Gly1844Ala
ENST00000536513.5:c.1907G>C ENSP00000439707.2:p.Gly636Ala
NM_000350.2:c.5531G>C NP_000341.2:p.Gly1844Ala
NM_000350.3:c.5531G>C MANE Select NP_000341.2:p.Gly1844Ala
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