Canonical Allele Identifier: CA814287997

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs1426485926
• gnomAD v3: 5-79126702-G-C
• gnomAD v4: 5-79126702-G-C
• MyVariant Identifiers: chr5:g.78422525G>C (hg19) ; chr5:g.79126702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79126702G>C , CM000667.2:g.79126702G>C	GRCh38
NC_000005.9:g.78422525G>C , CM000667.1:g.78422525G>C	GRCh37
NC_000005.8:g.78458281G>C	NCBI36
NG_029156.1:g.19922G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.808+474G>C (BHMT) MANE Select	ENSP00000274353.5:n.808+474G>C
ENST00000274353.9:c.808+474G>C (BHMT)	ENSP00000274353.5:n.808+474G>C
ENST00000518707.1:n.129-5350C>G (DMGDH)
ENST00000520388.5:n.229-5350C>G (DMGDH)
ENST00000521279.1:n.268+474G>C (BHMT)
ENST00000524080.1:c.349+474G>C (BHMT)	ENSP00000428240.1:n.349+474G>C
NM_001713.2:c.808+474G>C (BHMT)	NP_001704.2:n.808+474G>C
NM_001713.3:c.808+474G>C (BHMT) MANE Select	NP_001704.2:n.808+474G>C