Canonical Allele Identifier: CA348473550

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138771458C>G (hg19) ; chr2:g.138013888C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013888C>G , CM000664.2:g.138013888C>G	GRCh38
NC_000002.11:g.138771458C>G , CM000664.1:g.138771458C>G	GRCh37
NC_000002.10:g.138487928C>G	NCBI36
NG_012966.1:g.54651C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.637C>G MANE Select	ENSP00000280097.3:p.Leu213Val
ENST00000280097.4:c.637C>G	ENSP00000280097.3:p.Leu213Val
ENST00000410115.5:c.637C>G	ENSP00000386940.1:p.Leu213Val
ENST00000485653.1:n.569C>G
NM_006895.2:c.637C>G	NP_008826.1:p.Leu213Val
XM_011511063.1:c.535C>G	XP_011509365.1:p.Leu179Val
XM_011511064.1:c.259C>G	XP_011509366.1:p.Leu87Val
XM_011511064.2:c.259C>G	XP_011509366.1:p.Leu87Val
XM_017003948.1:c.535C>G	XP_016859437.1:p.Leu179Val
XR_001739719.1:n.232-6092G>C
XR_002959286.1:n.1024C>G
NM_006895.3:c.637C>G MANE Select	NP_008826.1:p.Leu213Val