Canonical Allele Identifier: CA348473562

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138771459T>A (hg19) ; chr2:g.138013889T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013889T>A , CM000664.2:g.138013889T>A	GRCh38
NC_000002.11:g.138771459T>A , CM000664.1:g.138771459T>A	GRCh37
NC_000002.10:g.138487929T>A	NCBI36
NG_012966.1:g.54652T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.638T>A MANE Select	ENSP00000280097.3:p.Leu213His
ENST00000280097.4:c.638T>A	ENSP00000280097.3:p.Leu213His
ENST00000410115.5:c.638T>A	ENSP00000386940.1:p.Leu213His
ENST00000485653.1:n.570T>A
NM_006895.2:c.638T>A	NP_008826.1:p.Leu213His
XM_011511063.1:c.536T>A	XP_011509365.1:p.Leu179His
XM_011511064.1:c.260T>A	XP_011509366.1:p.Leu87His
XM_011511064.2:c.260T>A	XP_011509366.1:p.Leu87His
XM_017003948.1:c.536T>A	XP_016859437.1:p.Leu179His
XR_001739719.1:n.232-6093A>T
XR_002959286.1:n.1025T>A
NM_006895.3:c.638T>A MANE Select	NP_008826.1:p.Leu213His