Canonical Allele Identifier: CA341290547
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94506803T>A (hg19) chr1:g.94041247T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041247T>A , CM000663.2:g.94041247T>A GRCh38
NC_000001.10:g.94506803T>A , CM000663.1:g.94506803T>A GRCh37
NC_000001.9:g.94279391T>A NCBI36
NG_009073.1:g.84903A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3484A>T MANE Select ENSP00000359245.3:p.Lys1162Ter
ENST00000370225.3:c.3484A>T ENSP00000359245.3:p.Lys1162Ter
ENST00000536513.5:c.-64-1158A>T ENSP00000439707.2:n.-64-1158A>T
NM_000350.2:c.3484A>T NP_000341.2:p.Lys1162Ter
NM_000350.3:c.3484A>T MANE Select NP_000341.2:p.Lys1162Ter
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