Canonical Allele Identifier: CA348473552

Gene: HNMT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.637C>T MANE Select	ENSP00000280097.3:p.Leu213Phe
ENST00000280097.4:c.637C>T	ENSP00000280097.3:p.Leu213Phe
ENST00000410115.5:c.637C>T	ENSP00000386940.1:p.Leu213Phe
ENST00000485653.1:n.569C>T
NM_006895.2:c.637C>T	NP_008826.1:p.Leu213Phe
XM_011511063.1:c.535C>T	XP_011509365.1:p.Leu179Phe
XM_011511064.1:c.259C>T	XP_011509366.1:p.Leu87Phe
XM_011511064.2:c.259C>T	XP_011509366.1:p.Leu87Phe
XM_017003948.1:c.535C>T	XP_016859437.1:p.Leu179Phe
XR_001739719.1:n.232-6092G>A
XR_002959286.1:n.1024C>T
NM_006895.3:c.637C>T MANE Select	NP_008826.1:p.Leu213Phe