Canonical Allele Identifier: CA121138532
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs553590357
gnomAD v2: 5-78416519-T-C
gnomAD v3: 5-79120696-T-C
gnomAD v4: 5-79120696-T-C
MyVariant Identifiers: chr5:g.78416519T>C (hg19) chr5:g.79120696T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120696T>C , CM000667.2:g.79120696T>C GRCh38
NC_000005.9:g.78416519T>C , CM000667.1:g.78416519T>C GRCh37
NC_000005.8:g.78452275T>C NCBI36
NG_029156.1:g.13916T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.477+155T>C (BHMT) MANE Select ENSP00000274353.5:n.477+155T>C
ENST00000274353.9:c.477+155T>C (BHMT) ENSP00000274353.5:n.477+155T>C
ENST00000518707.1:n.279-243A>G (DMGDH)
ENST00000520388.5:n.379-243A>G (DMGDH)
ENST00000523508.1:n.190+155T>C (BHMT)
ENST00000524080.1:c.166+4797T>C (BHMT) ENSP00000428240.1:n.166+4797T>C
NM_001713.2:c.477+155T>C (BHMT) NP_001704.2:n.477+155T>C
NM_001713.3:c.477+155T>C (BHMT) MANE Select NP_001704.2:n.477+155T>C
Search 100 bp 5'
Search 100 bp 3'