Canonical Allele Identifier: CA1557735765
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120625T= , CM000667.2:g.79120625T= GRCh38
NC_000005.9:g.78416448T= , CM000667.1:g.78416448T= GRCh37
NC_000005.8:g.78452204T= NCBI36
NG_029156.1:g.13845T=

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.477+84T= (BHMT) MANE Select ENSP00000274353.5:n.477+84T=
ENST00000274353.9:c.477+84T= (BHMT) ENSP00000274353.5:n.477+84T=
ENST00000518707.1:n.279-172A= (DMGDH)
ENST00000520388.5:n.379-172A= (DMGDH)
ENST00000523508.1:n.190+84T= (BHMT)
ENST00000524080.1:c.166+4726T= (BHMT) ENSP00000428240.1:n.166+4726T=
NM_001713.2:c.477+84T= (BHMT) NP_001704.2:n.477+84T=
NM_001713.3:c.477+84T= (BHMT) MANE Select NP_001704.2:n.477+84T=
Search 100 bp 5'
Search 100 bp 3'