Canonical Allele Identifier: CA360201915

Gene: BHMT DMGDH

Linked Data

• gnomAD v4: 5-79120407-G-A
• MyVariant Identifiers: chr5:g.78416230G>A (hg19) ; chr5:g.79120407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79120407G>A , CM000667.2:g.79120407G>A	GRCh38
NC_000005.9:g.78416230G>A , CM000667.1:g.78416230G>A	GRCh37
NC_000005.8:g.78451986G>A	NCBI36
NG_029156.1:g.13627G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274353.10:c.343G>A (BHMT) MANE Select	ENSP00000274353.5:p.Asp115Asn
ENST00000274353.9:c.343G>A (BHMT)	ENSP00000274353.5:p.Asp115Asn
ENST00000518707.1:n.325C>T (DMGDH)
ENST00000520388.5:n.425C>T (DMGDH)
ENST00000523508.1:n.56G>A (BHMT)
ENST00000524080.1:c.166+4508G>A (BHMT)	ENSP00000428240.1:n.166+4508G>A
NM_001713.2:c.343G>A (BHMT)	NP_001704.2:p.Asp115Asn
NM_001713.3:c.343G>A (BHMT) MANE Select	NP_001704.2:p.Asp115Asn