Canonical Allele Identifier: CA212293528

Gene: AS3MT BORCS7-ASMT

Linked Data

• dbSNP Id: rs574742253
• gnomAD v3: 10-102901615-G-C
• gnomAD v4: 10-102901615-G-C
• MyVariant Identifiers: chr10:g.104661372G>C (hg19) ; chr10:g.102901615G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102901615G>C , CM000672.2:g.102901615G>C	GRCh38
NC_000010.10:g.104661372G>C , CM000672.1:g.104661372G>C	GRCh37
NC_000010.9:g.104651362G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369880.8:c.*915G>C (AS3MT) MANE Select	ENSP00000358896.3:n.*915G>C
ENST00000299353.6:c.*2050G>C (BORCS7-ASMT)	ENSP00000299353.5:n.*2050G>C
ENST00000369880.7:c.*915G>C (AS3MT)	ENSP00000358896.3:n.*915G>C
ENST00000615257.1:c.*350G>C (AS3MT)	ENSP00000479361.1:n.*350G>C
NM_020682.3:c.*915G>C (AS3MT)	NP_065733.2:n.*915G>C
NR_037644.1:n.2448G>C (BORCS7-ASMT)
XM_017017027.1:c.447-1105C>G	XP_016872516.1:n.447-1105C>G
XR_001747577.1:n.169-1105C>G
XR_001747578.1:n.345-1105C>G
NM_020682.4:c.*915G>C (AS3MT) MANE Select	NP_065733.2:n.*915G>C
NR_160733.1:n.169-1105C>G