Canonical Allele Identifier: CA1181434731
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94079242A= , CM000663.2:g.94079242A= GRCh38
NC_000001.10:g.94544798A= , CM000663.1:g.94544798A= GRCh37
NC_000001.9:g.94317386A= NCBI36
NG_009073.1:g.46908T=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1239+80T= MANE Select ENSP00000359245.3:n.1239+80T=
ENST00000649773.1:c.1239+80T= ENSP00000496882.1:n.1239+80T=
ENST00000370225.3:c.1239+80T= ENSP00000359245.3:n.1239+80T=
NM_000350.2:c.1239+80T= NP_000341.2:n.1239+80T=
NM_000350.3:c.1239+80T= MANE Select NP_000341.2:n.1239+80T=
Search 100 bp 5'
Search 100 bp 3'