Canonical Allele Identifier: CA1181398381
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001703T= , CM000663.2:g.94001703T= GRCh38
NC_000001.10:g.94467259T= , CM000663.1:g.94467259T= GRCh37
NC_000001.9:g.94239847T= NCBI36
NG_009073.1:g.124447A=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6282+155A= MANE Select ENSP00000359245.3:n.6282+155A=
ENST00000370225.3:c.6282+155A= ENSP00000359245.3:n.6282+155A=
ENST00000465352.1:n.853A=
ENST00000536513.5:c.2658+155A= ENSP00000439707.2:n.2658+155A=
NM_000350.2:c.6282+155A= NP_000341.2:n.6282+155A=
NM_000350.3:c.6282+155A= MANE Select NP_000341.2:n.6282+155A=
Search 100 bp 5'
Search 100 bp 3'