Canonical Allele Identifier: CA2646645967
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94010677-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010677T>G , CM000663.2:g.94010677T>G GRCh38
NC_000001.10:g.94476233T>G , CM000663.1:g.94476233T>G GRCh37
NC_000001.9:g.94248821T>G NCBI36
NG_009073.1:g.115473A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5714+123A>C MANE Select ENSP00000359245.3:n.5714+123A>C
ENST00000370225.3:c.5714+123A>C ENSP00000359245.3:n.5714+123A>C
ENST00000465352.1:n.130+123A>C
ENST00000536513.5:c.2090+123A>C ENSP00000439707.2:n.2090+123A>C
NM_000350.2:c.5714+123A>C NP_000341.2:n.5714+123A>C
NM_000350.3:c.5714+123A>C MANE Select NP_000341.2:n.5714+123A>C
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