Canonical Allele Identifier: CA1557745040
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126841G= , CM000667.2:g.79126841G= GRCh38
NC_000005.9:g.78422664G= , CM000667.1:g.78422664G= GRCh37
NC_000005.8:g.78458420G= NCBI36
NG_029156.1:g.20061G=

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+613G= (BHMT) MANE Select ENSP00000274353.5:n.808+613G=
ENST00000274353.9:c.808+613G= (BHMT) ENSP00000274353.5:n.808+613G=
ENST00000518707.1:n.129-5489C= (DMGDH)
ENST00000520388.5:n.229-5489C= (DMGDH)
ENST00000521279.1:n.268+613G= (BHMT)
ENST00000524080.1:c.349+613G= (BHMT) ENSP00000428240.1:n.349+613G=
NM_001713.2:c.808+613G= (BHMT) NP_001704.2:n.808+613G=
NM_001713.3:c.808+613G= (BHMT) MANE Select NP_001704.2:n.808+613G=
Search 100 bp 5'
Search 100 bp 3'