Canonical Allele Identifier: CA418816878
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94476867G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011311G>T , CM000663.2:g.94011311G>T GRCh38
NC_000001.10:g.94476867G>T , CM000663.1:g.94476867G>T GRCh37
NC_000001.9:g.94249455G>T NCBI36
NG_009073.1:g.114839C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5535C>A MANE Select ENSP00000359245.3:p.Leu1845=
ENST00000370225.3:c.5535C>A ENSP00000359245.3:p.Leu1845=
ENST00000536513.5:c.1911C>A ENSP00000439707.2:p.Leu637=
NM_000350.2:c.5535C>A NP_000341.2:p.Leu1845=
NM_000350.3:c.5535C>A MANE Select NP_000341.2:p.Leu1845=
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