Canonical Allele Identifier: CA1932887169
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI

Linked Data

dbSNP Id: rs1845247444

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102900179A>T , CM000672.2:g.102900179A>T GRCh38
NC_000010.10:g.104659936A>T , CM000672.1:g.104659936A>T GRCh37
NC_000010.9:g.104649926A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369880.8:c.1021-414A>T (AS3MT) MANE Select ENSP00000358896.3:n.1021-414A>T
ENST00000299353.6:c.*1028-414A>T (BORCS7-ASMT) ENSP00000299353.5:n.*1028-414A>T
ENST00000369880.7:c.1021-414A>T (AS3MT) ENSP00000358896.3:n.1021-414A>T
ENST00000615257.1:c.*3-414A>T (AS3MT) ENSP00000479361.1:n.*3-414A>T
NM_020682.3:c.1021-414A>T (AS3MT) NP_065733.2:n.1021-414A>T
NR_037644.1:n.1426-414A>T (BORCS7-ASMT)
XM_017017027.1:c.*92+215T>A XP_016872516.1:n.*92+215T>A
XR_001747577.1:n.285+215T>A
XR_001747578.1:n.461+215T>A
NM_020682.4:c.1021-414A>T (AS3MT) MANE Select NP_065733.2:n.1021-414A>T
NR_160733.1:n.285+215T>A