Canonical Allele Identifier: CA1557745047
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126856A= , CM000667.2:g.79126856A= GRCh38
NC_000005.9:g.78422679A= , CM000667.1:g.78422679A= GRCh37
NC_000005.8:g.78458435A= NCBI36
NG_029156.1:g.20076A=

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+628A= (BHMT) MANE Select ENSP00000274353.5:n.808+628A=
ENST00000274353.9:c.808+628A= (BHMT) ENSP00000274353.5:n.808+628A=
ENST00000518707.1:n.129-5504T= (DMGDH)
ENST00000520388.5:n.229-5504T= (DMGDH)
ENST00000521279.1:n.268+628A= (BHMT)
ENST00000524080.1:c.349+628A= (BHMT) ENSP00000428240.1:n.349+628A=
NM_001713.2:c.808+628A= (BHMT) NP_001704.2:n.808+628A=
NM_001713.3:c.808+628A= (BHMT) MANE Select NP_001704.2:n.808+628A=
Search 100 bp 5'
Search 100 bp 3'