Canonical Allele Identifier: CA3319675
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI
COSMIC:
COSM4418474
dbSNP:
3733890
gnomAD v2:
5:78421959 G / A
gnomAD v3:
5:79126136 G / A
gnomAD v4:
chr5-79126136-G-A
Joint Max Group AF 0.36459958 (AMR)
Genomes Max Group AF 0.33319504 (AMR)
Exomes Max Group AF 0.37337677 (AMR)
MyVariant.info:
GRCh38 chr5:g.79126136G>A
GRCh37 chr5:g.78421959G>A
Revel Score:
ENST00000274353 (MANE Select) 0.058
ENST00000524080 0.058
ENST00000436224 0.058
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126136G>A , CM000667.2:g.79126136G>A GRCh38
NC_000005.9:g.78421959G>A , CM000667.1:g.78421959G>A GRCh37
NC_000005.8:g.78457715G>A NCBI36
NG_029156.1:g.19356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.716G>A (BHMT) MANE Select ENSP00000274353.5:p.Arg239Gln
ENST00000274353.9:c.716G>A (BHMT) ENSP00000274353.5:p.Arg239Gln
ENST00000518707.1:n.129-4784C>T (DMGDH)
ENST00000520388.5:n.229-4784C>T (DMGDH)
ENST00000521279.1:n.176G>A (BHMT)
ENST00000523508.1:n.429G>A (BHMT)
ENST00000524080.1:c.257G>A (BHMT) ENSP00000428240.1:p.Arg86Gln
NM_001713.2:c.716G>A (BHMT) NP_001704.2:p.Arg239Gln
NM_001713.3:c.716G>A (BHMT) MANE Select NP_001704.2:p.Arg239Gln
Search 100 bp 5'
Search 100 bp 3'