Canonical Allele Identifier: CA1181398625
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001928T= , CM000663.2:g.94001928T= GRCh38
NC_000001.10:g.94467484T= , CM000663.1:g.94467484T= GRCh37
NC_000001.9:g.94240072T= NCBI36
NG_009073.1:g.124222A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6212A= MANE Select ENSP00000359245.3:p.Tyr2071=
ENST00000370225.3:c.6212A= ENSP00000359245.3:p.Tyr2071=
ENST00000465352.1:n.628A=
ENST00000536513.5:c.2588A= ENSP00000439707.2:p.Tyr863=
NM_000350.2:c.6212A= NP_000341.2:p.Tyr2071=
NM_000350.3:c.6212A= MANE Select NP_000341.2:p.Tyr2071=
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