Canonical Allele Identifier: CA1181403267
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008208T= , CM000663.2:g.94008208T= GRCh38
NC_000001.10:g.94473764T= , CM000663.1:g.94473764T= GRCh37
NC_000001.9:g.94246352T= NCBI36
NG_009073.1:g.117942A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5898+27A= MANE Select ENSP00000359245.3:n.5898+27A=
ENST00000370225.3:c.5898+27A= ENSP00000359245.3:n.5898+27A=
ENST00000465352.1:n.314+27A=
ENST00000536513.5:c.2274+27A= ENSP00000439707.2:n.2274+27A=
NM_000350.2:c.5898+27A= NP_000341.2:n.5898+27A=
NM_000350.3:c.5898+27A= MANE Select NP_000341.2:n.5898+27A=