Canonical Allele Identifier: CA1181398681
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001953A= , CM000663.2:g.94001953A= GRCh38
NC_000001.10:g.94467509A= , CM000663.1:g.94467509A= GRCh37
NC_000001.9:g.94240097A= NCBI36
NG_009073.1:g.124197T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6187T= MANE Select ENSP00000359245.3:p.Tyr2063=
ENST00000370225.3:c.6187T= ENSP00000359245.3:p.Tyr2063=
ENST00000465352.1:n.603T=
ENST00000536513.5:c.2563T= ENSP00000439707.2:p.Tyr855=
NM_000350.2:c.6187T= NP_000341.2:p.Tyr2063=
NM_000350.3:c.6187T= MANE Select NP_000341.2:p.Tyr2063=