Canonical Allele Identifier: CA814312962

Linked Data

dbSNP Id: rs958350531
gnomAD v3: 5-79114860-A-T
gnomAD v4: 5-79114860-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79114860A>T , CM000667.2:g.79114860A>T GRCh38
NC_000005.9:g.78410683A>T , CM000667.1:g.78410683A>T GRCh37
NC_000005.8:g.78446439A>T NCBI36
NG_029156.1:g.8080A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.34-907A>T (BHMT) MANE Select ENSP00000274353.5:n.34-907A>T
ENST00000274353.9:c.34-907A>T (BHMT) ENSP00000274353.5:n.34-907A>T
ENST00000520335.5:n.111-907A>T (BHMT)
ENST00000520388.5:n.491+5481T>A (DMGDH)
ENST00000520703.1:n.111-907A>T (BHMT)
ENST00000524080.1:c.34-907A>T (BHMT) ENSP00000428240.1:n.34-907A>T
NM_001713.2:c.34-907A>T (BHMT) NP_001704.2:n.34-907A>T
NM_001713.3:c.34-907A>T (BHMT) MANE Select NP_001704.2:n.34-907A>T