Canonical Allele Identifier: CA1557732021

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79114792A= , CM000667.2:g.79114792A= GRCh38
NC_000005.9:g.78410615A= , CM000667.1:g.78410615A= GRCh37
NC_000005.8:g.78446371A= NCBI36
NG_029156.1:g.8012A=

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.34-975A= (BHMT) MANE Select ENSP00000274353.5:n.34-975A=
ENST00000274353.9:c.34-975A= (BHMT) ENSP00000274353.5:n.34-975A=
ENST00000520335.5:n.111-975A= (BHMT)
ENST00000520388.5:n.491+5549T= (DMGDH)
ENST00000520703.1:n.111-975A= (BHMT)
ENST00000524080.1:c.34-975A= (BHMT) ENSP00000428240.1:n.34-975A=
NM_001713.2:c.34-975A= (BHMT) NP_001704.2:n.34-975A=
NM_001713.3:c.34-975A= (BHMT) MANE Select NP_001704.2:n.34-975A=