Canonical Allele Identifier: CA2674379042
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

gnomAD v4: 5-79120624-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120624G>A , CM000667.2:g.79120624G>A GRCh38
NC_000005.9:g.78416447G>A , CM000667.1:g.78416447G>A GRCh37
NC_000005.8:g.78452203G>A NCBI36
NG_029156.1:g.13844G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.477+83G>A (BHMT) MANE Select ENSP00000274353.5:n.477+83G>A
ENST00000274353.9:c.477+83G>A (BHMT) ENSP00000274353.5:n.477+83G>A
ENST00000518707.1:n.279-171C>T (DMGDH)
ENST00000520388.5:n.379-171C>T (DMGDH)
ENST00000523508.1:n.190+83G>A (BHMT)
ENST00000524080.1:c.166+4725G>A (BHMT) ENSP00000428240.1:n.166+4725G>A
NM_001713.2:c.477+83G>A (BHMT) NP_001704.2:n.477+83G>A
NM_001713.3:c.477+83G>A (BHMT) MANE Select NP_001704.2:n.477+83G>A
Search 100 bp 5'
Search 100 bp 3'