Canonical Allele Identifier: CA13334213
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI
COSMIC:
COSN8862557 (not active)
gnomAD v2:
10:104636655 G / C
gnomAD v3:
10:102876898 G / C
gnomAD v4:
chr10-102876898-G-C
Joint Max Group AF 0.26230936 (EAS)
Genomes Max Group AF 0.2662083 (EAS)
Exomes Max Group AF 0.26049419 (EAS)
dbSNP:
3740393
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102876898G>C , CM000672.2:g.102876898G>C GRCh38
NC_000010.10:g.104636655G>C , CM000672.1:g.104636655G>C GRCh37
NC_000010.9:g.104626645G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369880.8:c.529-56G>C (AS3MT) MANE Select ENSP00000358896.3:n.529-56G>C
ENST00000299353.6:c.*536-56G>C (BORCS7-ASMT) ENSP00000299353.5:n.*536-56G>C
ENST00000369880.7:c.529-56G>C (AS3MT) ENSP00000358896.3:n.529-56G>C
ENST00000615257.1:c.529-56G>C (AS3MT) ENSP00000479361.1:n.529-56G>C
NM_020682.3:c.529-56G>C (AS3MT) NP_065733.2:n.529-56G>C
NR_037644.1:n.934-56G>C (BORCS7-ASMT)
NM_020682.4:c.529-56G>C (AS3MT) MANE Select NP_065733.2:n.529-56G>C
Search 100 bp 5'
Search 100 bp 3'