Canonical Allele Identifier: CA1141855844
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008252C= , CM000663.2:g.94008252C= GRCh38
NC_000001.10:g.94473808C= , CM000663.1:g.94473808C= GRCh37
NC_000001.9:g.94246396C= NCBI36
NG_009073.1:g.117898G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5881G= MANE Select ENSP00000359245.3:p.Gly1961=
ENST00000370225.3:c.5881G= ENSP00000359245.3:p.Gly1961=
ENST00000465352.1:n.297G=
ENST00000536513.5:c.2257G= ENSP00000439707.2:p.Gly753=
NM_000350.2:c.5881G= NP_000341.2:p.Gly1961=
NM_000350.3:c.5881G= MANE Select NP_000341.2:p.Gly1961=