Canonical Allele Identifier: CA1077868824

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs1756360428
• gnomAD v3: 5-79114761-C-T
• gnomAD v4: 5-79114761-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79114761C>T , CM000667.2:g.79114761C>T	GRCh38
NC_000005.9:g.78410584C>T , CM000667.1:g.78410584C>T	GRCh37
NC_000005.8:g.78446340C>T	NCBI36
NG_029156.1:g.7981C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.34-1006C>T (BHMT) MANE Select	ENSP00000274353.5:n.34-1006C>T
ENST00000274353.9:c.34-1006C>T (BHMT)	ENSP00000274353.5:n.34-1006C>T
ENST00000520335.5:n.111-1006C>T (BHMT)
ENST00000520388.5:n.491+5580G>A (DMGDH)
ENST00000520703.1:n.111-1006C>T (BHMT)
ENST00000524080.1:c.34-1006C>T (BHMT)	ENSP00000428240.1:n.34-1006C>T
NM_001713.2:c.34-1006C>T (BHMT)	NP_001704.2:n.34-1006C>T
NM_001713.3:c.34-1006C>T (BHMT) MANE Select	NP_001704.2:n.34-1006C>T