Canonical Allele Identifier: CA2518881769
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126690T>C , CM000667.2:g.79126690T>C GRCh38
NC_000005.9:g.78422513T>C , CM000667.1:g.78422513T>C GRCh37
NC_000005.8:g.78458269T>C NCBI36
NG_029156.1:g.19910T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+462T>C (BHMT) MANE Select ENSP00000274353.5:n.808+462T>C
ENST00000274353.9:c.808+462T>C (BHMT) ENSP00000274353.5:n.808+462T>C
ENST00000518707.1:n.129-5338A>G (DMGDH)
ENST00000520388.5:n.229-5338A>G (DMGDH)
ENST00000521279.1:n.268+462T>C (BHMT)
ENST00000524080.1:c.349+462T>C (BHMT) ENSP00000428240.1:n.349+462T>C
NM_001713.2:c.808+462T>C (BHMT) NP_001704.2:n.808+462T>C
NM_001713.3:c.808+462T>C (BHMT) MANE Select NP_001704.2:n.808+462T>C
Search 100 bp 5'
Search 100 bp 3'