Canonical Allele Identifier: CA3319596
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI
COSMIC:
COSN19649588 (not active)
MyVariant.info:
GRCh38 chr5:g.79120593C>T
GRCh37 chr5:g.78416416C>T
gnomAD v2:
5:78416416 C / T
gnomAD v3:
5:79120593 C / T
gnomAD v4:
chr5-79120593-C-T
Joint Max Group AF 0.4268424 (SAS)
Genomes Max Group AF 0.42068895 (SAS)
Exomes Max Group AF 0.42632676 (SAS)
dbSNP:
567754
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120593C>T , CM000667.2:g.79120593C>T GRCh38
NC_000005.9:g.78416416C>T , CM000667.1:g.78416416C>T GRCh37
NC_000005.8:g.78452172C>T NCBI36
NG_029156.1:g.13813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.477+52C>T (BHMT) MANE Select ENSP00000274353.5:n.477+52C>T
ENST00000274353.9:c.477+52C>T (BHMT) ENSP00000274353.5:n.477+52C>T
ENST00000518707.1:n.279-140G>A (DMGDH)
ENST00000520388.5:n.379-140G>A (DMGDH)
ENST00000523508.1:n.190+52C>T (BHMT)
ENST00000524080.1:c.166+4694C>T (BHMT) ENSP00000428240.1:n.166+4694C>T
NM_001713.2:c.477+52C>T (BHMT) NP_001704.2:n.477+52C>T
NM_001713.3:c.477+52C>T (BHMT) MANE Select NP_001704.2:n.477+52C>T
Search 100 bp 5'
Search 100 bp 3'