Canonical Allele Identifier: CA360201946
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78416234C>A (hg19) chr5:g.79120411C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120411C>A , CM000667.2:g.79120411C>A GRCh38
NC_000005.9:g.78416234C>A , CM000667.1:g.78416234C>A GRCh37
NC_000005.8:g.78451990C>A NCBI36
NG_029156.1:g.13631C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.347C>A (BHMT) MANE Select ENSP00000274353.5:p.Ala116Asp
ENST00000274353.9:c.347C>A (BHMT) ENSP00000274353.5:p.Ala116Asp
ENST00000518707.1:n.321G>T (DMGDH)
ENST00000520388.5:n.421G>T (DMGDH)
ENST00000523508.1:n.60C>A (BHMT)
ENST00000524080.1:c.166+4512C>A (BHMT) ENSP00000428240.1:n.166+4512C>A
NM_001713.2:c.347C>A (BHMT) NP_001704.2:p.Ala116Asp
NM_001713.3:c.347C>A (BHMT) MANE Select NP_001704.2:p.Ala116Asp
Search 100 bp 5'
Search 100 bp 3'