Canonical Allele Identifier: CA348473490

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138771448C>A (hg19) ; chr2:g.138013878C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013878C>A , CM000664.2:g.138013878C>A	GRCh38
NC_000002.11:g.138771448C>A , CM000664.1:g.138771448C>A	GRCh37
NC_000002.10:g.138487918C>A	NCBI36
NG_012966.1:g.54641C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.627C>A MANE Select	ENSP00000280097.3:p.Asp209Glu
ENST00000280097.4:c.627C>A	ENSP00000280097.3:p.Asp209Glu
ENST00000410115.5:c.627C>A	ENSP00000386940.1:p.Asp209Glu
ENST00000485653.1:n.559C>A
NM_006895.2:c.627C>A	NP_008826.1:p.Asp209Glu
XM_011511063.1:c.525C>A	XP_011509365.1:p.Asp175Glu
XM_011511064.1:c.249C>A	XP_011509366.1:p.Asp83Glu
XM_011511064.2:c.249C>A	XP_011509366.1:p.Asp83Glu
XM_017003948.1:c.525C>A	XP_016859437.1:p.Asp175Glu
XR_001739719.1:n.232-6082G>T
XR_002959286.1:n.1014C>A
NM_006895.3:c.627C>A MANE Select	NP_008826.1:p.Asp209Glu