Canonical Allele Identifier: CA5670120
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI
COSMIC:
COSM3751501 (not active)
MyVariant.info:
GRCh38 chr10:g.102878966T>C
GRCh37 chr10:g.104638723T>C
Revel Score:
ENST00000369880 (MANE Select) 0.049
gnomAD v2:
10:104638723 T / C
gnomAD v3:
10:102878966 T / C
gnomAD v4:
chr10-102878966-T-C
Joint Max Group AF 0.17972614 (MID)
Genomes Max Group AF 0.11594751 (AMR)
Exomes Max Group AF 0.18037157 (MID)
dbSNP:
11191439
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102878966T>C , CM000672.2:g.102878966T>C GRCh38
NC_000010.10:g.104638723T>C , CM000672.1:g.104638723T>C GRCh37
NC_000010.9:g.104628713T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369880.8:c.860T>C (AS3MT) MANE Select ENSP00000358896.3:p.Met287Thr
ENST00000299353.6:c.*867T>C (BORCS7-ASMT) ENSP00000299353.5:n.*867T>C
ENST00000369880.7:c.860T>C (AS3MT) ENSP00000358896.3:p.Met287Thr
ENST00000615257.1:c.860T>C (AS3MT) ENSP00000479361.1:p.Met287Thr
NM_020682.3:c.860T>C (AS3MT) NP_065733.2:p.Met287Thr
NR_037644.1:n.1265T>C (BORCS7-ASMT)
NM_020682.4:c.860T>C (AS3MT) MANE Select NP_065733.2:p.Met287Thr
Search 100 bp 5'
Search 100 bp 3'