Canonical Allele Identifier: CA2574655297
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102900515dup , CM000672.2:g.102900515dup GRCh38
NC_000010.10:g.104660272dup , CM000672.1:g.104660272dup GRCh37
NC_000010.9:g.104650262dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369880.8:c.1021-78dup (AS3MT) MANE Select ENSP00000358896.3:n.1021-78dup
ENST00000299353.6:c.*1028-78dup (BORCS7-ASMT) ENSP00000299353.5:n.*1028-78dup
ENST00000369880.7:c.1021-78dup (AS3MT) ENSP00000358896.3:n.1021-78dup
ENST00000615257.1:c.*3-78dup (AS3MT) ENSP00000479361.1:n.*3-78dup
NM_020682.3:c.1021-78dup (AS3MT) NP_065733.2:n.1021-78dup
NR_037644.1:n.1426-78dup (BORCS7-ASMT)
XM_017017027.1:c.447-3dup XP_016872516.1:n.447-3dup
XR_001747577.1:n.169-3dup
XR_001747578.1:n.345-3dup
NM_020682.4:c.1021-78dup (AS3MT) MANE Select NP_065733.2:n.1021-78dup
NR_160733.1:n.169-3dup
Search 100 bp 5'
Search 100 bp 3'