Canonical Allele Identifier: CA2744619252
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062523C>T , CM000663.2:g.94062523C>T GRCh38
NC_000001.10:g.94528079C>T , CM000663.1:g.94528079C>T GRCh37
NC_000001.9:g.94300667C>T NCBI36
NG_009073.1:g.63627G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1937+54G>A MANE Select ENSP00000359245.3:n.1937+54G>A
ENST00000649773.1:c.1937+54G>A ENSP00000496882.1:n.1937+54G>A
ENST00000370225.3:c.1937+54G>A ENSP00000359245.3:n.1937+54G>A
ENST00000536513.5:c.-65+651G>A ENSP00000439707.2:n.-65+651G>A
NM_000350.2:c.1937+54G>A NP_000341.2:n.1937+54G>A
NM_000350.3:c.1937+54G>A MANE Select NP_000341.2:n.1937+54G>A
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