Canonical Allele Identifier: CA1557735493

Gene: BHMT DMGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79120418A= , CM000667.2:g.79120418A=	GRCh38
NC_000005.9:g.78416241A= , CM000667.1:g.78416241A=	GRCh37
NC_000005.8:g.78451997A=	NCBI36
NG_029156.1:g.13638A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.354A= (BHMT) MANE Select	ENSP00000274353.5:p.Val118=
ENST00000274353.9:c.354A= (BHMT)	ENSP00000274353.5:p.Val118=
ENST00000518707.1:n.314T= (DMGDH)
ENST00000520388.5:n.414T= (DMGDH)
ENST00000523508.1:n.67A= (BHMT)
ENST00000524080.1:c.166+4519A= (BHMT)	ENSP00000428240.1:n.166+4519A=
NM_001713.2:c.354A= (BHMT)	NP_001704.2:p.Val118=
NM_001713.3:c.354A= (BHMT) MANE Select	NP_001704.2:p.Val118=