Canonical Allele Identifier: CA1062621854
Gene:

Linked Data

dbSNP Id: rs1717632766
gnomAD v3: 4-54072279-G-A
gnomAD v4: 4-54072279-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.54072279G>A , CM000666.2:g.54072279G>A GRCh38
NC_000004.11:g.54938446G>A , CM000666.1:g.54938446G>A GRCh37
NC_000004.10:g.54633203G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000507166.5:c.1018-202646G>A ENSP00000423325.1:n.1018-202646G>A
Search 100 bp 5'
Search 100 bp 3'