Canonical Allele Identifier: CA121141078
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs552209527
gnomAD v2: 5-78422527-G-C
gnomAD v3: 5-79126704-G-C
gnomAD v4: 5-79126704-G-C
MyVariant Identifiers: chr5:g.78422527G>C (hg19) chr5:g.79126704G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79126704G>C , CM000667.2:g.79126704G>C GRCh38
NC_000005.9:g.78422527G>C , CM000667.1:g.78422527G>C GRCh37
NC_000005.8:g.78458283G>C NCBI36
NG_029156.1:g.19924G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.808+476G>C (BHMT) MANE Select ENSP00000274353.5:n.808+476G>C
ENST00000274353.9:c.808+476G>C (BHMT) ENSP00000274353.5:n.808+476G>C
ENST00000518707.1:n.129-5352C>G (DMGDH)
ENST00000520388.5:n.229-5352C>G (DMGDH)
ENST00000521279.1:n.268+476G>C (BHMT)
ENST00000524080.1:c.349+476G>C (BHMT) ENSP00000428240.1:n.349+476G>C
NM_001713.2:c.808+476G>C (BHMT) NP_001704.2:n.808+476G>C
NM_001713.3:c.808+476G>C (BHMT) MANE Select NP_001704.2:n.808+476G>C
Search 100 bp 5'
Search 100 bp 3'