Canonical Allele Identifier: CA1932887309

Gene: AS3MT BORCS7-ASMT

Linked Data

• dbSNP Id: rs1845253235
• gnomAD v4: 10-102900520-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102900520A>G , CM000672.2:g.102900520A>G	GRCh38
NC_000010.10:g.104660277A>G , CM000672.1:g.104660277A>G	GRCh37
NC_000010.9:g.104650267A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369880.8:c.1021-73A>G (AS3MT) MANE Select	ENSP00000358896.3:n.1021-73A>G
ENST00000299353.6:c.*1028-73A>G (BORCS7-ASMT)	ENSP00000299353.5:n.*1028-73A>G
ENST00000369880.7:c.1021-73A>G (AS3MT)	ENSP00000358896.3:n.1021-73A>G
ENST00000615257.1:c.*3-73A>G (AS3MT)	ENSP00000479361.1:n.*3-73A>G
NM_020682.3:c.1021-73A>G (AS3MT)	NP_065733.2:n.1021-73A>G
NR_037644.1:n.1426-73A>G (BORCS7-ASMT)
XM_017017027.1:c.447-10T>C	XP_016872516.1:n.447-10T>C
XR_001747577.1:n.169-10T>C
XR_001747578.1:n.345-10T>C
NM_020682.4:c.1021-73A>G (AS3MT) MANE Select	NP_065733.2:n.1021-73A>G
NR_160733.1:n.169-10T>C