Canonical Allele Identifier: CA814312915

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs1478182362
• gnomAD v3: 5-79114740-C-T
• gnomAD v4: 5-79114740-C-T
• MyVariant Identifiers: chr5:g.78410563C>T (hg19) ; chr5:g.79114740C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79114740C>T , CM000667.2:g.79114740C>T	GRCh38
NC_000005.9:g.78410563C>T , CM000667.1:g.78410563C>T	GRCh37
NC_000005.8:g.78446319C>T	NCBI36
NG_029156.1:g.7960C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274353.10:c.34-1027C>T (BHMT) MANE Select	ENSP00000274353.5:n.34-1027C>T
ENST00000274353.9:c.34-1027C>T (BHMT)	ENSP00000274353.5:n.34-1027C>T
ENST00000520335.5:n.111-1027C>T (BHMT)
ENST00000520388.5:n.491+5601G>A (DMGDH)
ENST00000520703.1:n.111-1027C>T (BHMT)
ENST00000524080.1:c.34-1027C>T (BHMT)	ENSP00000428240.1:n.34-1027C>T
NM_001713.2:c.34-1027C>T (BHMT)	NP_001704.2:n.34-1027C>T
NM_001713.3:c.34-1027C>T (BHMT) MANE Select	NP_001704.2:n.34-1027C>T