Canonical Allele Identifier: CA1557732034

Linked Data

dbSNP Id: rs1756361526

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79114821A>G , CM000667.2:g.79114821A>G GRCh38
NC_000005.9:g.78410644A>G , CM000667.1:g.78410644A>G GRCh37
NC_000005.8:g.78446400A>G NCBI36
NG_029156.1:g.8041A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274353.10:c.34-946A>G (BHMT) MANE Select ENSP00000274353.5:n.34-946A>G
ENST00000274353.9:c.34-946A>G (BHMT) ENSP00000274353.5:n.34-946A>G
ENST00000520335.5:n.111-946A>G (BHMT)
ENST00000520388.5:n.491+5520T>C (DMGDH)
ENST00000520703.1:n.111-946A>G (BHMT)
ENST00000524080.1:c.34-946A>G (BHMT) ENSP00000428240.1:n.34-946A>G
NM_001713.2:c.34-946A>G (BHMT) NP_001704.2:n.34-946A>G
NM_001713.3:c.34-946A>G (BHMT) MANE Select NP_001704.2:n.34-946A>G