Canonical Allele Identifier: CA2744614029
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001812C>T , CM000663.2:g.94001812C>T GRCh38
NC_000001.10:g.94467368C>T , CM000663.1:g.94467368C>T GRCh37
NC_000001.9:g.94239956C>T NCBI36
NG_009073.1:g.124338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+46G>A MANE Select ENSP00000359245.3:n.6282+46G>A
ENST00000370225.3:c.6282+46G>A ENSP00000359245.3:n.6282+46G>A
ENST00000465352.1:n.744G>A
ENST00000536513.5:c.2658+46G>A ENSP00000439707.2:n.2658+46G>A
NM_000350.2:c.6282+46G>A NP_000341.2:n.6282+46G>A
NM_000350.3:c.6282+46G>A MANE Select NP_000341.2:n.6282+46G>A
Search 100 bp 5'
Search 100 bp 3'