Canonical Allele Identifier: CA2571774502

Gene: BHMT DMGDH

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79126715G>A , CM000667.2:g.79126715G>A	GRCh38
NC_000005.9:g.78422538G>A , CM000667.1:g.78422538G>A	GRCh37
NC_000005.8:g.78458294G>A	NCBI36
NG_029156.1:g.19935G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.808+487G>A (BHMT) MANE Select	ENSP00000274353.5:n.808+487G>A
ENST00000274353.9:c.808+487G>A (BHMT)	ENSP00000274353.5:n.808+487G>A
ENST00000518707.1:n.129-5363C>T (DMGDH)
ENST00000520388.5:n.229-5363C>T (DMGDH)
ENST00000521279.1:n.268+487G>A (BHMT)
ENST00000524080.1:c.349+487G>A (BHMT)	ENSP00000428240.1:n.349+487G>A
NM_001713.2:c.808+487G>A (BHMT)	NP_001704.2:n.808+487G>A
NM_001713.3:c.808+487G>A (BHMT) MANE Select	NP_001704.2:n.808+487G>A