Canonical Allele Identifier: CA2610730750

Gene: AS3MT BORCS7-ASMT

Linked Data

• gnomAD v4: 10-102900503-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102900503A>C , CM000672.2:g.102900503A>C	GRCh38
NC_000010.10:g.104660260A>C , CM000672.1:g.104660260A>C	GRCh37
NC_000010.9:g.104650250A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000369880.8:c.1021-90A>C (AS3MT) MANE Select	ENSP00000358896.3:n.1021-90A>C
ENST00000299353.6:c.*1028-90A>C (BORCS7-ASMT)	ENSP00000299353.5:n.*1028-90A>C
ENST00000369880.7:c.1021-90A>C (AS3MT)	ENSP00000358896.3:n.1021-90A>C
ENST00000615257.1:c.*3-90A>C (AS3MT)	ENSP00000479361.1:n.*3-90A>C
NM_020682.3:c.1021-90A>C (AS3MT)	NP_065733.2:n.1021-90A>C
NR_037644.1:n.1426-90A>C (BORCS7-ASMT)
XM_017017027.1:c.454T>G	XP_016872516.1:p.Tyr152Asp
XR_001747577.1:n.176T>G
XR_001747578.1:n.352T>G
NM_020682.4:c.1021-90A>C (AS3MT) MANE Select	NP_065733.2:n.1021-90A>C
NR_160733.1:n.176T>G