Canonical Allele Identifier: CA2574438540
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94062527-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062527A>C , CM000663.2:g.94062527A>C GRCh38
NC_000001.10:g.94528083A>C , CM000663.1:g.94528083A>C GRCh37
NC_000001.9:g.94300671A>C NCBI36
NG_009073.1:g.63623T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1937+50T>G MANE Select ENSP00000359245.3:n.1937+50T>G
ENST00000649773.1:c.1937+50T>G ENSP00000496882.1:n.1937+50T>G
ENST00000370225.3:c.1937+50T>G ENSP00000359245.3:n.1937+50T>G
ENST00000536513.5:c.-65+647T>G ENSP00000439707.2:n.-65+647T>G
NM_000350.2:c.1937+50T>G NP_000341.2:n.1937+50T>G
NM_000350.3:c.1937+50T>G MANE Select NP_000341.2:n.1937+50T>G
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