Canonical Allele Identifier: CA1557735859

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs911981042

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79120712A>C , CM000667.2:g.79120712A>C	GRCh38
NC_000005.9:g.78416535A>C , CM000667.1:g.78416535A>C	GRCh37
NC_000005.8:g.78452291A>C	NCBI36
NG_029156.1:g.13932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274353.10:c.477+171A>C (BHMT) MANE Select	ENSP00000274353.5:n.477+171A>C
ENST00000274353.9:c.477+171A>C (BHMT)	ENSP00000274353.5:n.477+171A>C
ENST00000518707.1:n.279-259T>G (DMGDH)
ENST00000520388.5:n.379-259T>G (DMGDH)
ENST00000523508.1:n.190+171A>C (BHMT)
ENST00000524080.1:c.166+4813A>C (BHMT)	ENSP00000428240.1:n.166+4813A>C
NM_001713.2:c.477+171A>C (BHMT)	NP_001704.2:n.477+171A>C
NM_001713.3:c.477+171A>C (BHMT) MANE Select	NP_001704.2:n.477+171A>C