Canonical Allele Identifier: CA721212591
Gene:

Linked Data

dbSNP Id: rs1225200558
gnomAD v3: 16-49108717-A-C
gnomAD v4: 16-49108717-A-C
MyVariant Identifiers: chr16:g.49142628A>C (hg19) chr16:g.49108717A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.49108717A>C , CM000678.2:g.49108717A>C GRCh38
NC_000016.9:g.49142628A>C , CM000678.1:g.49142628A>C GRCh37
NC_000016.8:g.47700129A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933517.1:n.810+1227T>G
XR_001752138.2:n.591+5259T>G
XR_933517.2:n.810+1227T>G
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