Canonical Allele Identifier: CA2610730755
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI

Linked Data

gnomAD v4: 10-102900506-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102900506T>C , CM000672.2:g.102900506T>C GRCh38
NC_000010.10:g.104660263T>C , CM000672.1:g.104660263T>C GRCh37
NC_000010.9:g.104650253T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369880.8:c.1021-87T>C (AS3MT) MANE Select ENSP00000358896.3:n.1021-87T>C
ENST00000299353.6:c.*1028-87T>C (BORCS7-ASMT) ENSP00000299353.5:n.*1028-87T>C
ENST00000369880.7:c.1021-87T>C (AS3MT) ENSP00000358896.3:n.1021-87T>C
ENST00000615257.1:c.*3-87T>C (AS3MT) ENSP00000479361.1:n.*3-87T>C
NM_020682.3:c.1021-87T>C (AS3MT) NP_065733.2:n.1021-87T>C
NR_037644.1:n.1426-87T>C (BORCS7-ASMT)
XM_017017027.1:c.451A>G XP_016872516.1:p.Thr151Ala
XR_001747577.1:n.173A>G
XR_001747578.1:n.349A>G
NM_020682.4:c.1021-87T>C (AS3MT) MANE Select NP_065733.2:n.1021-87T>C
NR_160733.1:n.173A>G
Search 100 bp 5'
Search 100 bp 3'