Canonical Allele Identifier: CA1932887808
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102901740C= , CM000672.2:g.102901740C= GRCh38
NC_000010.10:g.104661497C= , CM000672.1:g.104661497C= GRCh37
NC_000010.9:g.104651487C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369880.8:c.*1040C= (AS3MT) MANE Select ENSP00000358896.3:n.*1040C=
ENST00000299353.6:c.*2175C= (BORCS7-ASMT) ENSP00000299353.5:n.*2175C=
ENST00000369880.7:c.*1040C= (AS3MT) ENSP00000358896.3:n.*1040C=
ENST00000615257.1:c.*475C= (AS3MT) ENSP00000479361.1:n.*475C=
NM_020682.3:c.*1040C= (AS3MT) NP_065733.2:n.*1040C=
NR_037644.1:n.2573C= (BORCS7-ASMT)
XM_017017027.1:c.447-1230G= XP_016872516.1:n.447-1230G=
XR_001747577.1:n.169-1230G=
XR_001747578.1:n.345-1230G=
NM_020682.4:c.*1040C= (AS3MT) MANE Select NP_065733.2:n.*1040C=
NR_160733.1:n.169-1230G=
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