Canonical Allele Identifier: CA2674379034
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

gnomAD v4: 5-79120622-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120622G>C , CM000667.2:g.79120622G>C GRCh38
NC_000005.9:g.78416445G>C , CM000667.1:g.78416445G>C GRCh37
NC_000005.8:g.78452201G>C NCBI36
NG_029156.1:g.13842G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.477+81G>C (BHMT) MANE Select ENSP00000274353.5:n.477+81G>C
ENST00000274353.9:c.477+81G>C (BHMT) ENSP00000274353.5:n.477+81G>C
ENST00000518707.1:n.279-169C>G (DMGDH)
ENST00000520388.5:n.379-169C>G (DMGDH)
ENST00000523508.1:n.190+81G>C (BHMT)
ENST00000524080.1:c.166+4723G>C (BHMT) ENSP00000428240.1:n.166+4723G>C
NM_001713.2:c.477+81G>C (BHMT) NP_001704.2:n.477+81G>C
NM_001713.3:c.477+81G>C (BHMT) MANE Select NP_001704.2:n.477+81G>C
Search 100 bp 5'
Search 100 bp 3'