Canonical Allele Identifier: CA360201933
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78416232T>G (hg19) chr5:g.79120409T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120409T>G , CM000667.2:g.79120409T>G GRCh38
NC_000005.9:g.78416232T>G , CM000667.1:g.78416232T>G GRCh37
NC_000005.8:g.78451988T>G NCBI36
NG_029156.1:g.13629T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.345T>G (BHMT) MANE Select ENSP00000274353.5:p.Asp115Glu
ENST00000274353.9:c.345T>G (BHMT) ENSP00000274353.5:p.Asp115Glu
ENST00000518707.1:n.323A>C (DMGDH)
ENST00000520388.5:n.423A>C (DMGDH)
ENST00000523508.1:n.58T>G (BHMT)
ENST00000524080.1:c.166+4510T>G (BHMT) ENSP00000428240.1:n.166+4510T>G
NM_001713.2:c.345T>G (BHMT) NP_001704.2:p.Asp115Glu
NM_001713.3:c.345T>G (BHMT) MANE Select NP_001704.2:p.Asp115Glu
Search 100 bp 5'
Search 100 bp 3'