Canonical Allele Identifier: CA1140726129
Community Standard Title: NM_000350.3(ABCA4):c.1715G= (p.Arg572=)
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94063157C= , CM000663.2:g.94063157C= GRCh38
NC_000001.10:g.94528713C= , CM000663.1:g.94528713C= GRCh37
NC_000001.9:g.94301301C= NCBI36
NG_009073.1:g.62993G=

Transcript Alleles

HGVS Amino-acid Change
NM_000350.3:c.1715G= MANE Select NP_000341.2:p.Arg572=
ENST00000370225.4:c.1715G= MANE Select ENSP00000359245.3:p.Arg572=
NM_000350.2:c.1715G= NP_000341.2:p.Arg572=
ENST00000370225.3:c.1715G= ENSP00000359245.3:p.Arg572=
ENST00000536513.5:c.-65+17G= ENSP00000439707.2:n.-65+17G=
ENST00000649773.1:c.1715G= ENSP00000496882.1:p.Arg572=