Canonical Allele Identifier: CA121141146

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs949572596
• gnomAD v3: 5-79126862-T-G
• gnomAD v4: 5-79126862-T-G
• MyVariant Identifiers: chr5:g.78422685T>G (hg19) ; chr5:g.79126862T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79126862T>G , CM000667.2:g.79126862T>G	GRCh38
NC_000005.9:g.78422685T>G , CM000667.1:g.78422685T>G	GRCh37
NC_000005.8:g.78458441T>G	NCBI36
NG_029156.1:g.20082T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.808+634T>G (BHMT) MANE Select	ENSP00000274353.5:n.808+634T>G
ENST00000274353.9:c.808+634T>G (BHMT)	ENSP00000274353.5:n.808+634T>G
ENST00000518707.1:n.129-5510A>C (DMGDH)
ENST00000520388.5:n.229-5510A>C (DMGDH)
ENST00000521279.1:n.268+634T>G (BHMT)
ENST00000524080.1:c.349+634T>G (BHMT)	ENSP00000428240.1:n.349+634T>G
NM_001713.2:c.808+634T>G (BHMT)	NP_001704.2:n.808+634T>G
NM_001713.3:c.808+634T>G (BHMT) MANE Select	NP_001704.2:n.808+634T>G