Canonical Allele Identifier: CA1557735486

Gene: BHMT DMGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79120412T= , CM000667.2:g.79120412T=	GRCh38
NC_000005.9:g.78416235T= , CM000667.1:g.78416235T=	GRCh37
NC_000005.8:g.78451991T=	NCBI36
NG_029156.1:g.13632T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274353.10:c.348T= (BHMT) MANE Select	ENSP00000274353.5:p.Ala116=
ENST00000274353.9:c.348T= (BHMT)	ENSP00000274353.5:p.Ala116=
ENST00000518707.1:n.320A= (DMGDH)
ENST00000520388.5:n.420A= (DMGDH)
ENST00000523508.1:n.61T= (BHMT)
ENST00000524080.1:c.166+4513T= (BHMT)	ENSP00000428240.1:n.166+4513T=
NM_001713.2:c.348T= (BHMT)	NP_001704.2:p.Ala116=
NM_001713.3:c.348T= (BHMT) MANE Select	NP_001704.2:p.Ala116=