Canonical Allele Identifier: CA931957783

Gene: AS3MT BORCS7-ASMT

Linked Data

• dbSNP Id: rs1845253388
• gnomAD v3: 10-102900526-A-T
• gnomAD v4: 10-102900526-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102900526A>T , CM000672.2:g.102900526A>T	GRCh38
NC_000010.10:g.104660283A>T , CM000672.1:g.104660283A>T	GRCh37
NC_000010.9:g.104650273A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369880.8:c.1021-67A>T (AS3MT) MANE Select	ENSP00000358896.3:n.1021-67A>T
ENST00000299353.6:c.*1028-67A>T (BORCS7-ASMT)	ENSP00000299353.5:n.*1028-67A>T
ENST00000369880.7:c.1021-67A>T (AS3MT)	ENSP00000358896.3:n.1021-67A>T
ENST00000615257.1:c.*3-67A>T (AS3MT)	ENSP00000479361.1:n.*3-67A>T
NM_020682.3:c.1021-67A>T (AS3MT)	NP_065733.2:n.1021-67A>T
NR_037644.1:n.1426-67A>T (BORCS7-ASMT)
XM_017017027.1:c.447-16T>A	XP_016872516.1:n.447-16T>A
XR_001747577.1:n.169-16T>A
XR_001747578.1:n.345-16T>A
NM_020682.4:c.1021-67A>T (AS3MT) MANE Select	NP_065733.2:n.1021-67A>T
NR_160733.1:n.169-16T>A