Canonical Allele Identifier: CA1557735843

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79120693T= , CM000667.2:g.79120693T= GRCh38
NC_000005.9:g.78416516T= , CM000667.1:g.78416516T= GRCh37
NC_000005.8:g.78452272T= NCBI36
NG_029156.1:g.13913T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.477+152T= (BHMT) MANE Select ENSP00000274353.5:n.477+152T=
ENST00000274353.9:c.477+152T= (BHMT) ENSP00000274353.5:n.477+152T=
ENST00000518707.1:n.279-240A= (DMGDH)
ENST00000520388.5:n.379-240A= (DMGDH)
ENST00000523508.1:n.190+152T= (BHMT)
ENST00000524080.1:c.166+4794T= (BHMT) ENSP00000428240.1:n.166+4794T=
NM_001713.2:c.477+152T= (BHMT) NP_001704.2:n.477+152T=
NM_001713.3:c.477+152T= (BHMT) MANE Select NP_001704.2:n.477+152T=