Canonical Allele Identifier: CA1181415136
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030967A= , CM000663.2:g.94030967A= GRCh38
NC_000001.10:g.94496523A= , CM000663.1:g.94496523A= GRCh37
NC_000001.9:g.94269111A= NCBI36
NG_009073.1:g.95183T=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4253+29T= MANE Select ENSP00000359245.3:n.4253+29T=
ENST00000370225.3:c.4253+29T= ENSP00000359245.3:n.4253+29T=
ENST00000536513.5:c.629+29T= ENSP00000439707.2:n.629+29T=
NM_000350.2:c.4253+29T= NP_000341.2:n.4253+29T=
NM_000350.3:c.4253+29T= MANE Select NP_000341.2:n.4253+29T=
Search 100 bp 5'
Search 100 bp 3'