Canonical Allele Identifier: CA3319565
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs758515635
ExAC: 5:78416233 G / A
gnomAD v2: 5-78416233-G-A
gnomAD v3: 5-79120410-G-A
gnomAD v4: 5-79120410-G-A
COSMIC: COSM266094
MyVariant Identifiers: chr5:g.78416233G>A (hg19) chr5:g.79120410G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120410G>A , CM000667.2:g.79120410G>A GRCh38
NC_000005.9:g.78416233G>A , CM000667.1:g.78416233G>A GRCh37
NC_000005.8:g.78451989G>A NCBI36
NG_029156.1:g.13630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.346G>A (BHMT) MANE Select ENSP00000274353.5:p.Ala116Thr
ENST00000274353.9:c.346G>A (BHMT) ENSP00000274353.5:p.Ala116Thr
ENST00000518707.1:n.322C>T (DMGDH)
ENST00000520388.5:n.422C>T (DMGDH)
ENST00000523508.1:n.59G>A (BHMT)
ENST00000524080.1:c.166+4511G>A (BHMT) ENSP00000428240.1:n.166+4511G>A
NM_001713.2:c.346G>A (BHMT) NP_001704.2:p.Ala116Thr
NM_001713.3:c.346G>A (BHMT) MANE Select NP_001704.2:p.Ala116Thr
Search 100 bp 5'
Search 100 bp 3'