Canonical Allele Identifier: CA2674379118

Gene: BHMT DMGDH

Linked Data

• gnomAD v4: 5-79120663-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79120663T>C , CM000667.2:g.79120663T>C	GRCh38
NC_000005.9:g.78416486T>C , CM000667.1:g.78416486T>C	GRCh37
NC_000005.8:g.78452242T>C	NCBI36
NG_029156.1:g.13883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274353.10:c.477+122T>C (BHMT) MANE Select	ENSP00000274353.5:n.477+122T>C
ENST00000274353.9:c.477+122T>C (BHMT)	ENSP00000274353.5:n.477+122T>C
ENST00000518707.1:n.279-210A>G (DMGDH)
ENST00000520388.5:n.379-210A>G (DMGDH)
ENST00000523508.1:n.190+122T>C (BHMT)
ENST00000524080.1:c.166+4764T>C (BHMT)	ENSP00000428240.1:n.166+4764T>C
NM_001713.2:c.477+122T>C (BHMT)	NP_001704.2:n.477+122T>C
NM_001713.3:c.477+122T>C (BHMT) MANE Select	NP_001704.2:n.477+122T>C