Canonical Allele Identifier: CA418821952
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94487486T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021930T>C , CM000663.2:g.94021930T>C GRCh38
NC_000001.10:g.94487486T>C , CM000663.1:g.94487486T>C GRCh37
NC_000001.9:g.94260074T>C NCBI36
NG_009073.1:g.104220A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4689A>G MANE Select ENSP00000359245.3:p.Gly1563=
ENST00000370225.3:c.4689A>G ENSP00000359245.3:p.Gly1563=
ENST00000460514.1:n.183A>G
ENST00000536513.5:c.1065A>G ENSP00000439707.2:p.Gly355=
NM_000350.2:c.4689A>G NP_000341.2:p.Gly1563=
NM_000350.3:c.4689A>G MANE Select NP_000341.2:p.Gly1563=