Canonical Allele Identifier: CA418824312
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94495045G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029489G>A , CM000663.2:g.94029489G>A GRCh38
NC_000001.10:g.94495045G>A , CM000663.1:g.94495045G>A GRCh37
NC_000001.9:g.94267633G>A NCBI36
NG_009073.1:g.96661C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4495C>T MANE Select ENSP00000359245.3:p.Leu1499=
ENST00000370225.3:c.4495C>T ENSP00000359245.3:p.Leu1499=
ENST00000536513.5:c.871C>T ENSP00000439707.2:p.Leu291=
NM_000350.2:c.4495C>T NP_000341.2:p.Leu1499=
NM_000350.3:c.4495C>T MANE Select NP_000341.2:p.Leu1499=
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Search 100 bp 3'