Canonical Allele Identifier: CA1557745065
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1756560113
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126865G>A , CM000667.2:g.79126865G>A GRCh38
NC_000005.9:g.78422688G>A , CM000667.1:g.78422688G>A GRCh37
NC_000005.8:g.78458444G>A NCBI36
NG_029156.1:g.20085G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+637G>A (BHMT) MANE Select ENSP00000274353.5:n.808+637G>A
ENST00000274353.9:c.808+637G>A (BHMT) ENSP00000274353.5:n.808+637G>A
ENST00000518707.1:n.129-5513C>T (DMGDH)
ENST00000520388.5:n.229-5513C>T (DMGDH)
ENST00000521279.1:n.268+637G>A (BHMT)
ENST00000524080.1:c.349+637G>A (BHMT) ENSP00000428240.1:n.349+637G>A
NM_001713.2:c.808+637G>A (BHMT) NP_001704.2:n.808+637G>A
NM_001713.3:c.808+637G>A (BHMT) MANE Select NP_001704.2:n.808+637G>A
Search 100 bp 5'
Search 100 bp 3'