Canonical Allele Identifier: CA1181415382
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031686T= , CM000663.2:g.94031686T= GRCh38
NC_000001.10:g.94497242T= , CM000663.1:g.94497242T= GRCh37
NC_000001.9:g.94269830T= NCBI36
NG_009073.1:g.94464A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4128+92A= MANE Select ENSP00000359245.3:n.4128+92A=
ENST00000370225.3:c.4128+92A= ENSP00000359245.3:n.4128+92A=
ENST00000536513.5:c.504+92A= ENSP00000439707.2:n.504+92A=
NM_000350.2:c.4128+92A= NP_000341.2:n.4128+92A=
NM_000350.3:c.4128+92A= MANE Select NP_000341.2:n.4128+92A=