Canonical Allele Identifier: CA1557744785
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1756557946
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126691C>G , CM000667.2:g.79126691C>G GRCh38
NC_000005.9:g.78422514C>G , CM000667.1:g.78422514C>G GRCh37
NC_000005.8:g.78458270C>G NCBI36
NG_029156.1:g.19911C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+463C>G (BHMT) MANE Select ENSP00000274353.5:n.808+463C>G
ENST00000274353.9:c.808+463C>G (BHMT) ENSP00000274353.5:n.808+463C>G
ENST00000518707.1:n.129-5339G>C (DMGDH)
ENST00000520388.5:n.229-5339G>C (DMGDH)
ENST00000521279.1:n.268+463C>G (BHMT)
ENST00000524080.1:c.349+463C>G (BHMT) ENSP00000428240.1:n.349+463C>G
NM_001713.2:c.808+463C>G (BHMT) NP_001704.2:n.808+463C>G
NM_001713.3:c.808+463C>G (BHMT) MANE Select NP_001704.2:n.808+463C>G
Search 100 bp 5'
Search 100 bp 3'