Canonical Allele Identifier: CA2597569100
Gene:

Linked Data

dbSNP Id: rs2107006547
gnomAD v3: 3-53057269-G-C
gnomAD v4: 3-53057269-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53057269G>C , CM000665.2:g.53057269G>C GRCh38
NC_000003.11:g.53091285G>C , CM000665.1:g.53091285G>C GRCh37
NC_000003.10:g.53066325G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-10030C>G
ENST00000607283.5:c.465-14015C>G
ENST00000607495.5:c.447+20419C>G
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