Canonical Allele Identifier: CA1181398586
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001910C= , CM000663.2:g.94001910C= GRCh38
NC_000001.10:g.94467466C= , CM000663.1:g.94467466C= GRCh37
NC_000001.9:g.94240054C= NCBI36
NG_009073.1:g.124240G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6230G= MANE Select ENSP00000359245.3:p.Arg2077=
ENST00000370225.3:c.6230G= ENSP00000359245.3:p.Arg2077=
ENST00000465352.1:n.646G=
ENST00000536513.5:c.2606G= ENSP00000439707.2:p.Arg869=
NM_000350.2:c.6230G= NP_000341.2:p.Arg2077=
NM_000350.3:c.6230G= MANE Select NP_000341.2:p.Arg2077=