Canonical Allele Identifier: CA341275521
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047040T>C , CM000663.2:g.94047040T>C GRCh38
NC_000001.10:g.94512596T>C , CM000663.1:g.94512596T>C GRCh37
NC_000001.9:g.94285184T>C NCBI36
NG_009073.1:g.79110A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2797A>G MANE Select ENSP00000359245.3:p.Asn933Asp
ENST00000649773.1:c.2575A>G ENSP00000496882.1:p.Asn859Asp
ENST00000370225.3:c.2797A>G ENSP00000359245.3:p.Asn933Asp
ENST00000536513.5:c.-64-6951A>G ENSP00000439707.2:n.-64-6951A>G
NM_000350.2:c.2797A>G NP_000341.2:p.Asn933Asp
NM_000350.3:c.2797A>G MANE Select NP_000341.2:p.Asn933Asp