Canonical Allele Identifier: CA560768162
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1382975956
gnomAD v2: 5-78416472-T-C
gnomAD v3: 5-79120649-T-C
gnomAD v4: 5-79120649-T-C
MyVariant Identifiers: chr5:g.78416472T>C (hg19) chr5:g.79120649T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120649T>C , CM000667.2:g.79120649T>C GRCh38
NC_000005.9:g.78416472T>C , CM000667.1:g.78416472T>C GRCh37
NC_000005.8:g.78452228T>C NCBI36
NG_029156.1:g.13869T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.477+108T>C (BHMT) MANE Select ENSP00000274353.5:n.477+108T>C
ENST00000274353.9:c.477+108T>C (BHMT) ENSP00000274353.5:n.477+108T>C
ENST00000518707.1:n.279-196A>G (DMGDH)
ENST00000520388.5:n.379-196A>G (DMGDH)
ENST00000523508.1:n.190+108T>C (BHMT)
ENST00000524080.1:c.166+4750T>C (BHMT) ENSP00000428240.1:n.166+4750T>C
NM_001713.2:c.477+108T>C (BHMT) NP_001704.2:n.477+108T>C
NM_001713.3:c.477+108T>C (BHMT) MANE Select NP_001704.2:n.477+108T>C
Search 100 bp 5'
Search 100 bp 3'