Canonical Allele Identifier: CA360201958
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.78416236T>G (hg19) chr5:g.79120413T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120413T>G , CM000667.2:g.79120413T>G GRCh38
NC_000005.9:g.78416236T>G , CM000667.1:g.78416236T>G GRCh37
NC_000005.8:g.78451992T>G NCBI36
NG_029156.1:g.13633T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.349T>G (BHMT) MANE Select ENSP00000274353.5:p.Leu117Val
ENST00000274353.9:c.349T>G (BHMT) ENSP00000274353.5:p.Leu117Val
ENST00000518707.1:n.319A>C (DMGDH)
ENST00000520388.5:n.419A>C (DMGDH)
ENST00000523508.1:n.62T>G (BHMT)
ENST00000524080.1:c.166+4514T>G (BHMT) ENSP00000428240.1:n.166+4514T>G
NM_001713.2:c.349T>G (BHMT) NP_001704.2:p.Leu117Val
NM_001713.3:c.349T>G (BHMT) MANE Select NP_001704.2:p.Leu117Val
Search 100 bp 5'
Search 100 bp 3'