Canonical Allele Identifier: CA560509643
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1219851667
gnomAD v2: 5-78410603-A-G
gnomAD v3: 5-79114780-A-G
gnomAD v4: 5-79114780-A-G
MyVariant Identifiers: chr5:g.78410603A>G (hg19) chr5:g.79114780A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79114780A>G , CM000667.2:g.79114780A>G GRCh38
NC_000005.9:g.78410603A>G , CM000667.1:g.78410603A>G GRCh37
NC_000005.8:g.78446359A>G NCBI36
NG_029156.1:g.8000A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.34-987A>G (BHMT) MANE Select ENSP00000274353.5:n.34-987A>G
ENST00000274353.9:c.34-987A>G (BHMT) ENSP00000274353.5:n.34-987A>G
ENST00000520335.5:n.111-987A>G (BHMT)
ENST00000520388.5:n.491+5561T>C (DMGDH)
ENST00000520703.1:n.111-987A>G (BHMT)
ENST00000524080.1:c.34-987A>G (BHMT) ENSP00000428240.1:n.34-987A>G
NM_001713.2:c.34-987A>G (BHMT) NP_001704.2:n.34-987A>G
NM_001713.3:c.34-987A>G (BHMT) MANE Select NP_001704.2:n.34-987A>G
Search 100 bp 5'
Search 100 bp 3'