Canonical Allele Identifier: CA1181414999
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030661G= , CM000663.2:g.94030661G= GRCh38
NC_000001.10:g.94496217G= , CM000663.1:g.94496217G= GRCh37
NC_000001.9:g.94268805G= NCBI36
NG_009073.1:g.95489C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4254-135C= MANE Select ENSP00000359245.3:n.4254-135C=
ENST00000370225.3:c.4254-135C= ENSP00000359245.3:n.4254-135C=
ENST00000536513.5:c.630-135C= ENSP00000439707.2:n.630-135C=
NM_000350.2:c.4254-135C= NP_000341.2:n.4254-135C=
NM_000350.3:c.4254-135C= MANE Select NP_000341.2:n.4254-135C=
Search 100 bp 5'
Search 100 bp 3'