Canonical Allele Identifier: CA418813842
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94473204G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007648G>C , CM000663.2:g.94007648G>C GRCh38
NC_000001.10:g.94473204G>C , CM000663.1:g.94473204G>C GRCh37
NC_000001.9:g.94245792G>C NCBI36
NG_009073.1:g.118502C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5991C>G MANE Select ENSP00000359245.3:p.Thr1997=
ENST00000370225.3:c.5991C>G ENSP00000359245.3:p.Thr1997=
ENST00000465352.1:n.407C>G
ENST00000484388.1:n.105C>G
ENST00000536513.5:c.2367C>G ENSP00000439707.2:p.Thr789=
NM_000350.2:c.5991C>G NP_000341.2:p.Thr1997=
NM_000350.3:c.5991C>G MANE Select NP_000341.2:p.Thr1997=
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