Canonical Allele Identifier: CA348477819

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138759672T>A (hg19) ; chr2:g.138002102T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002102T>A , CM000664.2:g.138002102T>A	GRCh38
NC_000002.11:g.138759672T>A , CM000664.1:g.138759672T>A	GRCh37
NC_000002.10:g.138476142T>A	NCBI36
NG_012966.1:g.42865T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280097.5:c.337T>A MANE Select	ENSP00000280097.3:p.Phe113Ile
ENST00000280097.4:c.337T>A	ENSP00000280097.3:p.Phe113Ile
ENST00000410115.5:c.337T>A	ENSP00000386940.1:p.Phe113Ile
ENST00000467390.5:n.349T>A
ENST00000485653.1:n.269T>A
NM_006895.2:c.337T>A	NP_008826.1:p.Phe113Ile
XM_011511063.1:c.235T>A	XP_011509365.1:p.Phe79Ile
XM_011511064.1:c.-42T>A	XP_011509366.1:n.-42T>A
XM_011511064.2:c.-42T>A	XP_011509366.1:n.-42T>A
XM_017003948.1:c.235T>A	XP_016859437.1:p.Phe79Ile
XM_017003949.2:c.337T>A	XP_016859438.1:p.Phe113Ile
XR_001739719.1:n.1039+4887A>T
XR_002959286.1:n.724T>A
NM_006895.3:c.337T>A MANE Select	NP_008826.1:p.Phe113Ile