Canonical Allele Identifier: CA2709094500
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1350675229
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126840C>G , CM000667.2:g.79126840C>G GRCh38
NC_000005.9:g.78422663C>G , CM000667.1:g.78422663C>G GRCh37
NC_000005.8:g.78458419C>G NCBI36
NG_029156.1:g.20060C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+612C>G (BHMT) MANE Select ENSP00000274353.5:n.808+612C>G
ENST00000274353.9:c.808+612C>G (BHMT) ENSP00000274353.5:n.808+612C>G
ENST00000518707.1:n.129-5488G>C (DMGDH)
ENST00000520388.5:n.229-5488G>C (DMGDH)
ENST00000521279.1:n.268+612C>G (BHMT)
ENST00000524080.1:c.349+612C>G (BHMT) ENSP00000428240.1:n.349+612C>G
NM_001713.2:c.808+612C>G (BHMT) NP_001704.2:n.808+612C>G
NM_001713.3:c.808+612C>G (BHMT) MANE Select NP_001704.2:n.808+612C>G
Search 100 bp 5'
Search 100 bp 3'