Canonical Allele Identifier: CA13167500
Gene: BORCS7-ASMT HGNC NCBI
dbSNP:
7085104
gnomAD v2:
10:104628873 A / G
gnomAD v3:
10:102869116 A / G
gnomAD v4:
chr10-102869116-A-G
Joint Max Group AF 0.49668757 (EAS)
Genomes Max Group AF 0.49668757 (EAS)
MyVariant.info:
GRCh38 chr10:g.102869116A>G
GRCh37 chr10:g.104628873A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102869116A>G , CM000672.2:g.102869116A>G GRCh38
NC_000010.10:g.104628873A>G , CM000672.1:g.104628873A>G GRCh37
NC_000010.9:g.104618863A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000299353.6:c.*9-689A>G ENSP00000299353.5:n.*9-689A>G
NR_037644.1:n.407-689A>G
XR_946274.1:n.75+222T>C
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