Canonical Allele Identifier: CA2744619167
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060866A>C , CM000663.2:g.94060866A>C GRCh38
NC_000001.10:g.94526422A>C , CM000663.1:g.94526422A>C GRCh37
NC_000001.9:g.94299010A>C NCBI36
NG_009073.1:g.65284T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1938-107T>G MANE Select ENSP00000359245.3:n.1938-107T>G
ENST00000649773.1:c.1938-107T>G ENSP00000496882.1:n.1938-107T>G
ENST00000370225.3:c.1938-107T>G ENSP00000359245.3:n.1938-107T>G
ENST00000472033.1:n.58-107T>G
ENST00000536513.5:c.-65+2308T>G ENSP00000439707.2:n.-65+2308T>G
NM_000350.2:c.1938-107T>G NP_000341.2:n.1938-107T>G
NM_000350.3:c.1938-107T>G MANE Select NP_000341.2:n.1938-107T>G
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