Canonical Allele Identifier: CA445104709

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs1580270878
• MyVariant Identifiers: chr5:g.78416241A>T (hg19)

Genomic Alleles

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

Transcript Alleles

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