Canonical Allele Identifier: CA814312920

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs1190467703
• gnomAD v3: 5-79114742-T-C
• gnomAD v4: 5-79114742-T-C
• MyVariant Identifiers: chr5:g.78410565T>C (hg19) ; chr5:g.79114742T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79114742T>C , CM000667.2:g.79114742T>C	GRCh38
NC_000005.9:g.78410565T>C , CM000667.1:g.78410565T>C	GRCh37
NC_000005.8:g.78446321T>C	NCBI36
NG_029156.1:g.7962T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.34-1025T>C (BHMT) MANE Select	ENSP00000274353.5:n.34-1025T>C
ENST00000274353.9:c.34-1025T>C (BHMT)	ENSP00000274353.5:n.34-1025T>C
ENST00000520335.5:n.111-1025T>C (BHMT)
ENST00000520388.5:n.491+5599A>G (DMGDH)
ENST00000520703.1:n.111-1025T>C (BHMT)
ENST00000524080.1:c.34-1025T>C (BHMT)	ENSP00000428240.1:n.34-1025T>C
NM_001713.2:c.34-1025T>C (BHMT)	NP_001704.2:n.34-1025T>C
NM_001713.3:c.34-1025T>C (BHMT) MANE Select	NP_001704.2:n.34-1025T>C