Canonical Allele Identifier: CA121141063

Gene: BHMT DMGDH

Linked Data

• dbSNP Id: rs971468425
• gnomAD v2: 5-78422511-G-T
• gnomAD v3: 5-79126688-G-T
• gnomAD v4: 5-79126688-G-T
• MyVariant Identifiers: chr5:g.78422511G>T (hg19) ; chr5:g.79126688G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79126688G>T , CM000667.2:g.79126688G>T	GRCh38
NC_000005.9:g.78422511G>T , CM000667.1:g.78422511G>T	GRCh37
NC_000005.8:g.78458267G>T	NCBI36
NG_029156.1:g.19908G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000274353.10:c.808+460G>T (BHMT) MANE Select	ENSP00000274353.5:n.808+460G>T
ENST00000274353.9:c.808+460G>T (BHMT)	ENSP00000274353.5:n.808+460G>T
ENST00000518707.1:n.129-5336C>A (DMGDH)
ENST00000520388.5:n.229-5336C>A (DMGDH)
ENST00000521279.1:n.268+460G>T (BHMT)
ENST00000524080.1:c.349+460G>T (BHMT)	ENSP00000428240.1:n.349+460G>T
NM_001713.2:c.808+460G>T (BHMT)	NP_001704.2:n.808+460G>T
NM_001713.3:c.808+460G>T (BHMT) MANE Select	NP_001704.2:n.808+460G>T