Canonical Allele Identifier: CA1557732010
Gene: BHMT HGNC NCBI
DMGDH HGNC NCBI

Linked Data

dbSNP Id: rs376312326
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79114766G>T , CM000667.2:g.79114766G>T GRCh38
NC_000005.9:g.78410589G>T , CM000667.1:g.78410589G>T GRCh37
NC_000005.8:g.78446345G>T NCBI36
NG_029156.1:g.7986G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274353.10:c.34-1001G>T (BHMT) MANE Select ENSP00000274353.5:n.34-1001G>T
ENST00000274353.9:c.34-1001G>T (BHMT) ENSP00000274353.5:n.34-1001G>T
ENST00000520335.5:n.111-1001G>T (BHMT)
ENST00000520388.5:n.491+5575C>A (DMGDH)
ENST00000520703.1:n.111-1001G>T (BHMT)
ENST00000524080.1:c.34-1001G>T (BHMT) ENSP00000428240.1:n.34-1001G>T
NM_001713.2:c.34-1001G>T (BHMT) NP_001704.2:n.34-1001G>T
NM_001713.3:c.34-1001G>T (BHMT) MANE Select NP_001704.2:n.34-1001G>T
Search 100 bp 5'
Search 100 bp 3'