Canonical Allele Identifier: CA360201923
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78416231A>C (hg19) chr5:g.79120408A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120408A>C , CM000667.2:g.79120408A>C GRCh38
NC_000005.9:g.78416231A>C , CM000667.1:g.78416231A>C GRCh37
NC_000005.8:g.78451987A>C NCBI36
NG_029156.1:g.13628A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.344A>C (BHMT) MANE Select ENSP00000274353.5:p.Asp115Ala
ENST00000274353.9:c.344A>C (BHMT) ENSP00000274353.5:p.Asp115Ala
ENST00000518707.1:n.324T>G (DMGDH)
ENST00000520388.5:n.424T>G (DMGDH)
ENST00000523508.1:n.57A>C (BHMT)
ENST00000524080.1:c.166+4509A>C (BHMT) ENSP00000428240.1:n.166+4509A>C
NM_001713.2:c.344A>C (BHMT) NP_001704.2:p.Asp115Ala
NM_001713.3:c.344A>C (BHMT) MANE Select NP_001704.2:p.Asp115Ala
Search 100 bp 5'
Search 100 bp 3'