Canonical Allele Identifier: CA2610730747
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI

Linked Data

gnomAD v4: 10-102900501-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102900501G>A , CM000672.2:g.102900501G>A GRCh38
NC_000010.10:g.104660258G>A , CM000672.1:g.104660258G>A GRCh37
NC_000010.9:g.104650248G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369880.8:c.1021-92G>A (AS3MT) MANE Select ENSP00000358896.3:n.1021-92G>A
ENST00000299353.6:c.*1028-92G>A (BORCS7-ASMT) ENSP00000299353.5:n.*1028-92G>A
ENST00000369880.7:c.1021-92G>A (AS3MT) ENSP00000358896.3:n.1021-92G>A
ENST00000615257.1:c.*3-92G>A (AS3MT) ENSP00000479361.1:n.*3-92G>A
NM_020682.3:c.1021-92G>A (AS3MT) NP_065733.2:n.1021-92G>A
NR_037644.1:n.1426-92G>A (BORCS7-ASMT)
XM_017017027.1:c.456C>T XP_016872516.1:p.Tyr152=
XR_001747577.1:n.178C>T
XR_001747578.1:n.354C>T
NM_020682.4:c.1021-92G>A (AS3MT) MANE Select NP_065733.2:n.1021-92G>A
NR_160733.1:n.178C>T
Search 100 bp 5'
Search 100 bp 3'