Canonical Allele Identifier: CA15652799
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI
gnomAD v2:
10:104661484 T / C
gnomAD v3:
10:102901727 T / C
gnomAD v4:
chr10-102901727-T-C
Joint Max Group AF 0.45415301 (EAS)
Genomes Max Group AF 0.45425554 (EAS)
Exomes Max Group AF 0.164179 (EAS)
dbSNP:
1046778
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102901727T>C , CM000672.2:g.102901727T>C GRCh38
NC_000010.10:g.104661484T>C , CM000672.1:g.104661484T>C GRCh37
NC_000010.9:g.104651474T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369880.8:c.*1027T>C (AS3MT) MANE Select ENSP00000358896.3:n.*1027T>C
ENST00000299353.6:c.*2162T>C (BORCS7-ASMT) ENSP00000299353.5:n.*2162T>C
ENST00000369880.7:c.*1027T>C (AS3MT) ENSP00000358896.3:n.*1027T>C
ENST00000615257.1:c.*462T>C (AS3MT) ENSP00000479361.1:n.*462T>C
NM_020682.3:c.*1027T>C (AS3MT) NP_065733.2:n.*1027T>C
NR_037644.1:n.2560T>C (BORCS7-ASMT)
XM_017017027.1:c.447-1217A>G XP_016872516.1:n.447-1217A>G
XR_001747577.1:n.169-1217A>G
XR_001747578.1:n.345-1217A>G
NM_020682.4:c.*1027T>C (AS3MT) MANE Select NP_065733.2:n.*1027T>C
NR_160733.1:n.169-1217A>G
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