Canonical Allele Identifier: CA2578346288

Gene: BHMT DMGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79120640A>T , CM000667.2:g.79120640A>T	GRCh38
NC_000005.9:g.78416463A>T , CM000667.1:g.78416463A>T	GRCh37
NC_000005.8:g.78452219A>T	NCBI36
NG_029156.1:g.13860A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274353.10:c.477+99A>T (BHMT) MANE Select	ENSP00000274353.5:n.477+99A>T
ENST00000274353.9:c.477+99A>T (BHMT)	ENSP00000274353.5:n.477+99A>T
ENST00000518707.1:n.279-187T>A (DMGDH)
ENST00000520388.5:n.379-187T>A (DMGDH)
ENST00000523508.1:n.190+99A>T (BHMT)
ENST00000524080.1:c.166+4741A>T (BHMT)	ENSP00000428240.1:n.166+4741A>T
NM_001713.2:c.477+99A>T (BHMT)	NP_001704.2:n.477+99A>T
NM_001713.3:c.477+99A>T (BHMT) MANE Select	NP_001704.2:n.477+99A>T