Canonical Allele Identifier: CA341276228
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94463420G>T (hg19) chr1:g.93997864G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997864G>T , CM000663.2:g.93997864G>T GRCh38
NC_000001.10:g.94463420G>T , CM000663.1:g.94463420G>T GRCh37
NC_000001.9:g.94236008G>T NCBI36
NG_009073.1:g.128286C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6726C>A MANE Select ENSP00000359245.3:p.Asp2242Glu
ENST00000370225.3:c.6726C>A ENSP00000359245.3:p.Asp2242Glu
ENST00000536513.5:c.3102C>A ENSP00000439707.2:p.Asp1034Glu
NM_000350.2:c.6726C>A NP_000341.2:p.Asp2242Glu
NM_000350.3:c.6726C>A MANE Select NP_000341.2:p.Asp2242Glu
Search 100 bp 5'
Search 100 bp 3'