Canonical Allele Identifier: CA1181408874
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021855A= , CM000663.2:g.94021855A= GRCh38
NC_000001.10:g.94487411A= , CM000663.1:g.94487411A= GRCh37
NC_000001.9:g.94259999A= NCBI36
NG_009073.1:g.104295T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4764T= MANE Select ENSP00000359245.3:p.Asn1588=
ENST00000370225.3:c.4764T= ENSP00000359245.3:p.Asn1588=
ENST00000460514.1:n.258T=
ENST00000536513.5:c.1140T= ENSP00000439707.2:p.Asn380=
NM_000350.2:c.4764T= NP_000341.2:p.Asn1588=
NM_000350.3:c.4764T= MANE Select NP_000341.2:p.Asn1588=
Search 100 bp 5'
Search 100 bp 3'