Canonical Allele Identifier: CA1557735793
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1756453872
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120657T>A , CM000667.2:g.79120657T>A GRCh38
NC_000005.9:g.78416480T>A , CM000667.1:g.78416480T>A GRCh37
NC_000005.8:g.78452236T>A NCBI36
NG_029156.1:g.13877T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.477+116T>A (BHMT) MANE Select ENSP00000274353.5:n.477+116T>A
ENST00000274353.9:c.477+116T>A (BHMT) ENSP00000274353.5:n.477+116T>A
ENST00000518707.1:n.279-204A>T (DMGDH)
ENST00000520388.5:n.379-204A>T (DMGDH)
ENST00000523508.1:n.190+116T>A (BHMT)
ENST00000524080.1:c.166+4758T>A (BHMT) ENSP00000428240.1:n.166+4758T>A
NM_001713.2:c.477+116T>A (BHMT) NP_001704.2:n.477+116T>A
NM_001713.3:c.477+116T>A (BHMT) MANE Select NP_001704.2:n.477+116T>A
Search 100 bp 5'
Search 100 bp 3'