Canonical Allele Identifier: CA1139849092
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041357A= , CM000663.2:g.94041357A= GRCh38
NC_000001.10:g.94506913A= , CM000663.1:g.94506913A= GRCh37
NC_000001.9:g.94279501A= NCBI36
NG_009073.1:g.84793T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3374T= MANE Select ENSP00000359245.3:p.Leu1125=
ENST00000370225.3:c.3374T= ENSP00000359245.3:p.Leu1125=
ENST00000536513.5:c.-64-1268T= ENSP00000439707.2:n.-64-1268T=
NM_000350.2:c.3374T= NP_000341.2:p.Leu1125=
NM_000350.3:c.3374T= MANE Select NP_000341.2:p.Leu1125=