Canonical Allele Identifier: CA2610731464

Gene: AS3MT BORCS7-ASMT

Linked Data

• gnomAD v4: 10-102901678-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102901678G>T , CM000672.2:g.102901678G>T	GRCh38
NC_000010.10:g.104661435G>T , CM000672.1:g.104661435G>T	GRCh37
NC_000010.9:g.104651425G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369880.8:c.*978G>T (AS3MT) MANE Select	ENSP00000358896.3:n.*978G>T
ENST00000299353.6:c.*2113G>T (BORCS7-ASMT)	ENSP00000299353.5:n.*2113G>T
ENST00000369880.7:c.*978G>T (AS3MT)	ENSP00000358896.3:n.*978G>T
ENST00000615257.1:c.*413G>T (AS3MT)	ENSP00000479361.1:n.*413G>T
NM_020682.3:c.*978G>T (AS3MT)	NP_065733.2:n.*978G>T
NR_037644.1:n.2511G>T (BORCS7-ASMT)
XM_017017027.1:c.447-1168C>A	XP_016872516.1:n.447-1168C>A
XR_001747577.1:n.169-1168C>A
XR_001747578.1:n.345-1168C>A
NM_020682.4:c.*978G>T (AS3MT) MANE Select	NP_065733.2:n.*978G>T
NR_160733.1:n.169-1168C>A