Canonical Allele Identifier: CA212293533

Gene: AS3MT BORCS7-ASMT

Linked Data

• dbSNP Id: rs1029790726
• gnomAD v4: 10-102901653-G-T
• MyVariant Identifiers: chr10:g.104661410G>T (hg19) ; chr10:g.102901653G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102901653G>T , CM000672.2:g.102901653G>T	GRCh38
NC_000010.10:g.104661410G>T , CM000672.1:g.104661410G>T	GRCh37
NC_000010.9:g.104651400G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369880.8:c.*953G>T (AS3MT) MANE Select	ENSP00000358896.3:n.*953G>T
ENST00000299353.6:c.*2088G>T (BORCS7-ASMT)	ENSP00000299353.5:n.*2088G>T
ENST00000369880.7:c.*953G>T (AS3MT)	ENSP00000358896.3:n.*953G>T
ENST00000615257.1:c.*388G>T (AS3MT)	ENSP00000479361.1:n.*388G>T
NM_020682.3:c.*953G>T (AS3MT)	NP_065733.2:n.*953G>T
NR_037644.1:n.2486G>T (BORCS7-ASMT)
XM_017017027.1:c.447-1143C>A	XP_016872516.1:n.447-1143C>A
XR_001747577.1:n.169-1143C>A
XR_001747578.1:n.345-1143C>A
NM_020682.4:c.*953G>T (AS3MT) MANE Select	NP_065733.2:n.*953G>T
NR_160733.1:n.169-1143C>A