Canonical Allele Identifier: CA1891758

Gene: HNMT

Linked Data

• ClinVar Variation Id: 3106369
• ClinVar RCV Id: RCV004399759
• dbSNP Id: rs779158046
• ExAC: 2:138759666 G / A
• gnomAD v2: 2-138759666-G-A
• gnomAD v4: 2-138002096-G-A
• MyVariant Identifiers: chr2:g.138759666G>A (hg19) ; chr2:g.138002096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002096G>A , CM000664.2:g.138002096G>A	GRCh38
NC_000002.11:g.138759666G>A , CM000664.1:g.138759666G>A	GRCh37
NC_000002.10:g.138476136G>A	NCBI36
NG_012966.1:g.42859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280097.5:c.331G>A MANE Select	ENSP00000280097.3:p.Val111Ile
ENST00000280097.4:c.331G>A	ENSP00000280097.3:p.Val111Ile
ENST00000410115.5:c.331G>A	ENSP00000386940.1:p.Val111Ile
ENST00000467390.5:n.343G>A
ENST00000485653.1:n.263G>A
NM_006895.2:c.331G>A	NP_008826.1:p.Val111Ile
XM_011511063.1:c.229G>A	XP_011509365.1:p.Val77Ile
XM_011511064.1:c.-48G>A	XP_011509366.1:n.-48G>A
XM_011511064.2:c.-48G>A	XP_011509366.1:n.-48G>A
XM_017003948.1:c.229G>A	XP_016859437.1:p.Val77Ile
XM_017003949.2:c.331G>A	XP_016859438.1:p.Val111Ile
XR_001739719.1:n.1039+4893C>T
XR_002959286.1:n.718G>A
NM_006895.3:c.331G>A MANE Select	NP_008826.1:p.Val111Ile