Canonical Allele Identifier: CA1062621861
Gene:

Linked Data

gnomAD v3: 4-54072291-G-A
gnomAD v4: 4-54072291-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54072291G>A , CM000666.2:g.54072291G>A GRCh38
NC_000004.11:g.54938458G>A , CM000666.1:g.54938458G>A GRCh37
NC_000004.10:g.54633215G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000507166.5:c.1018-202634G>A ENSP00000423325.1:n.1018-202634G>A
Search 100 bp 5'
Search 100 bp 3'