Canonical Allele Identifier: CA121136645

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs889492616
• gnomAD v3: 5-79114745-A-G
• gnomAD v4: 5-79114745-A-G
• MyVariant Identifiers: chr5:g.78410568A>G (hg19) ; chr5:g.79114745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79114745A>G , CM000667.2:g.79114745A>G	GRCh38
NC_000005.9:g.78410568A>G , CM000667.1:g.78410568A>G	GRCh37
NC_000005.8:g.78446324A>G	NCBI36
NG_029156.1:g.7965A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.34-1022A>G (BHMT) MANE Select	ENSP00000274353.5:n.34-1022A>G
ENST00000274353.9:c.34-1022A>G (BHMT)	ENSP00000274353.5:n.34-1022A>G
ENST00000520335.5:n.111-1022A>G (BHMT)
ENST00000520388.5:n.491+5596T>C (DMGDH)
ENST00000520703.1:n.111-1022A>G (BHMT)
ENST00000524080.1:c.34-1022A>G (BHMT)	ENSP00000428240.1:n.34-1022A>G
NM_001713.2:c.34-1022A>G (BHMT)	NP_001704.2:n.34-1022A>G
NM_001713.3:c.34-1022A>G (BHMT) MANE Select	NP_001704.2:n.34-1022A>G