Canonical Allele Identifier: CA121141140
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs944428322
gnomAD v2: 5-78422664-G-A
gnomAD v3: 5-79126841-G-A
gnomAD v4: 5-79126841-G-A
MyVariant Identifiers: chr5:g.78422664G>A (hg19) chr5:g.79126841G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+613G>A (BHMT) MANE Select ENSP00000274353.5:n.808+613G>A
ENST00000274353.9:c.808+613G>A (BHMT) ENSP00000274353.5:n.808+613G>A
ENST00000518707.1:n.129-5489C>T (DMGDH)
ENST00000520388.5:n.229-5489C>T (DMGDH)
ENST00000521279.1:n.268+613G>A (BHMT)
ENST00000524080.1:c.349+613G>A (BHMT) ENSP00000428240.1:n.349+613G>A
NM_001713.2:c.808+613G>A (BHMT) NP_001704.2:n.808+613G>A
NM_001713.3:c.808+613G>A (BHMT) MANE Select NP_001704.2:n.808+613G>A
Search 100 bp 5'
Search 100 bp 3'