Canonical Allele Identifier: CA1557745103
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs1756560191
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126880del , CM000667.2:g.79126880del GRCh38
NC_000005.9:g.78422703del , CM000667.1:g.78422703del GRCh37
NC_000005.8:g.78458459del NCBI36
NG_029156.1:g.20100del

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+652del (BHMT) MANE Select ENSP00000274353.5:n.808+652del
ENST00000274353.9:c.808+652del (BHMT) ENSP00000274353.5:n.808+652del
ENST00000518707.1:n.129-5528del (DMGDH)
ENST00000520388.5:n.229-5528del (DMGDH)
ENST00000521279.1:n.268+652del (BHMT)
ENST00000524080.1:c.349+652del (BHMT) ENSP00000428240.1:n.349+652del
NM_001713.2:c.808+652del (BHMT) NP_001704.2:n.808+652del
NM_001713.3:c.808+652del (BHMT) MANE Select NP_001704.2:n.808+652del
Search 100 bp 5'
Search 100 bp 3'