Canonical Allele Identifier: CA2646653593
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94111359-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111359C>A , CM000663.2:g.94111359C>A GRCh38
NC_000001.10:g.94576915C>A , CM000663.1:g.94576915C>A GRCh37
NC_000001.9:g.94349503C>A NCBI36
NG_009073.1:g.14791G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.302+79G>T MANE Select ENSP00000359245.3:n.302+79G>T
ENST00000649773.1:c.302+79G>T ENSP00000496882.1:n.302+79G>T
ENST00000370225.3:c.302+79G>T ENSP00000359245.3:n.302+79G>T
NM_000350.2:c.302+79G>T NP_000341.2:n.302+79G>T
NM_000350.3:c.302+79G>T MANE Select NP_000341.2:n.302+79G>T
Search 100 bp 5'
Search 100 bp 3'