Canonical Allele Identifier: CA360201972
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78416238G>T (hg19) chr5:g.79120415G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120415G>T , CM000667.2:g.79120415G>T GRCh38
NC_000005.9:g.78416238G>T , CM000667.1:g.78416238G>T GRCh37
NC_000005.8:g.78451994G>T NCBI36
NG_029156.1:g.13635G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.351G>T (BHMT) MANE Select ENSP00000274353.5:p.Leu117Phe
ENST00000274353.9:c.351G>T (BHMT) ENSP00000274353.5:p.Leu117Phe
ENST00000518707.1:n.317C>A (DMGDH)
ENST00000520388.5:n.417C>A (DMGDH)
ENST00000523508.1:n.64G>T (BHMT)
ENST00000524080.1:c.166+4516G>T (BHMT) ENSP00000428240.1:n.166+4516G>T
NM_001713.2:c.351G>T (BHMT) NP_001704.2:p.Leu117Phe
NM_001713.3:c.351G>T (BHMT) MANE Select NP_001704.2:p.Leu117Phe
Search 100 bp 5'
Search 100 bp 3'