Canonical Allele Identifier: CA1181426363
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056414T= , CM000663.2:g.94056414T= GRCh38
NC_000001.10:g.94521970T= , CM000663.1:g.94521970T= GRCh37
NC_000001.9:g.94294558T= NCBI36
NG_009073.1:g.69736A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2382+187A= MANE Select ENSP00000359245.3:n.2382+187A=
ENST00000649773.1:c.2161-1099A= ENSP00000496882.1:n.2161-1099A=
ENST00000370225.3:c.2382+187A= ENSP00000359245.3:n.2382+187A=
ENST00000536513.5:c.-65+6760A= ENSP00000439707.2:n.-65+6760A=
NM_000350.2:c.2382+187A= NP_000341.2:n.2382+187A=
NM_000350.3:c.2382+187A= MANE Select NP_000341.2:n.2382+187A=
Search 100 bp 5'
Search 100 bp 3'