Canonical Allele Identifier: CA360201985
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78416240T>A (hg19) chr5:g.79120417T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120417T>A , CM000667.2:g.79120417T>A GRCh38
NC_000005.9:g.78416240T>A , CM000667.1:g.78416240T>A GRCh37
NC_000005.8:g.78451996T>A NCBI36
NG_029156.1:g.13637T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.353T>A (BHMT) MANE Select ENSP00000274353.5:p.Val118Glu
ENST00000274353.9:c.353T>A (BHMT) ENSP00000274353.5:p.Val118Glu
ENST00000518707.1:n.315A>T (DMGDH)
ENST00000520388.5:n.415A>T (DMGDH)
ENST00000523508.1:n.66T>A (BHMT)
ENST00000524080.1:c.166+4518T>A (BHMT) ENSP00000428240.1:n.166+4518T>A
NM_001713.2:c.353T>A (BHMT) NP_001704.2:p.Val118Glu
NM_001713.3:c.353T>A (BHMT) MANE Select NP_001704.2:p.Val118Glu
Search 100 bp 5'
Search 100 bp 3'