Canonical Allele Identifier: CA348477794

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138759661A>T (hg19) ; chr2:g.138002091A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002091A>T , CM000664.2:g.138002091A>T	GRCh38
NC_000002.11:g.138759661A>T , CM000664.1:g.138759661A>T	GRCh37
NC_000002.10:g.138476131A>T	NCBI36
NG_012966.1:g.42854A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.326A>T MANE Select	ENSP00000280097.3:p.Glu109Val
ENST00000280097.4:c.326A>T	ENSP00000280097.3:p.Glu109Val
ENST00000410115.5:c.326A>T	ENSP00000386940.1:p.Glu109Val
ENST00000467390.5:n.338A>T
ENST00000485653.1:n.258A>T
NM_006895.2:c.326A>T	NP_008826.1:p.Glu109Val
XM_011511063.1:c.224A>T	XP_011509365.1:p.Glu75Val
XM_011511064.1:c.-53A>T	XP_011509366.1:n.-53A>T
XM_011511064.2:c.-53A>T	XP_011509366.1:n.-53A>T
XM_017003948.1:c.224A>T	XP_016859437.1:p.Glu75Val
XM_017003949.2:c.326A>T	XP_016859438.1:p.Glu109Val
XR_001739719.1:n.1039+4898T>A
XR_002959286.1:n.713A>T
NM_006895.3:c.326A>T MANE Select	NP_008826.1:p.Glu109Val