Canonical Allele Identifier: CA1181397606
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94000954G= , CM000663.2:g.94000954G= GRCh38
NC_000001.10:g.94466510G= , CM000663.1:g.94466510G= GRCh37
NC_000001.9:g.94239098G= NCBI36
NG_009073.1:g.125196C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6387-26C= MANE Select ENSP00000359245.3:n.6387-26C=
ENST00000370225.3:c.6387-26C= ENSP00000359245.3:n.6387-26C=
ENST00000536513.5:c.2763-26C= ENSP00000439707.2:n.2763-26C=
NM_000350.2:c.6387-26C= NP_000341.2:n.6387-26C=
NM_000350.3:c.6387-26C= MANE Select NP_000341.2:n.6387-26C=