Canonical Allele Identifier: CA1891811

Gene: HNMT

Linked Data

• dbSNP Id: rs776804395
• ExAC: 2:138771356 T / A
• MyVariant Identifiers: chr2:g.138771356T>A (hg19) ; chr2:g.138013786T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013786T>A , CM000664.2:g.138013786T>A	GRCh38
NC_000002.11:g.138771356T>A , CM000664.1:g.138771356T>A	GRCh37
NC_000002.10:g.138487826T>A	NCBI36
NG_012966.1:g.54549T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.535T>A MANE Select	ENSP00000280097.3:p.Trp179Arg
ENST00000280097.4:c.535T>A	ENSP00000280097.3:p.Trp179Arg
ENST00000410115.5:c.535T>A	ENSP00000386940.1:p.Trp179Arg
ENST00000485653.1:n.467T>A
NM_006895.2:c.535T>A	NP_008826.1:p.Trp179Arg
XM_011511063.1:c.433T>A	XP_011509365.1:p.Trp145Arg
XM_011511064.1:c.157T>A	XP_011509366.1:p.Trp53Arg
XM_011511064.2:c.157T>A	XP_011509366.1:p.Trp53Arg
XM_017003948.1:c.433T>A	XP_016859437.1:p.Trp145Arg
XR_001739719.1:n.232-5990A>T
XR_002959286.1:n.922T>A
NM_006895.3:c.535T>A MANE Select	NP_008826.1:p.Trp179Arg