Canonical Allele Identifier: CA348472829

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138771349C>A (hg19) ; chr2:g.138013779C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013779C>A , CM000664.2:g.138013779C>A	GRCh38
NC_000002.11:g.138771349C>A , CM000664.1:g.138771349C>A	GRCh37
NC_000002.10:g.138487819C>A	NCBI36
NG_012966.1:g.54542C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.528C>A MANE Select	ENSP00000280097.3:p.Ser176Arg
ENST00000280097.4:c.528C>A	ENSP00000280097.3:p.Ser176Arg
ENST00000410115.5:c.528C>A	ENSP00000386940.1:p.Ser176Arg
ENST00000485653.1:n.460C>A
NM_006895.2:c.528C>A	NP_008826.1:p.Ser176Arg
XM_011511063.1:c.426C>A	XP_011509365.1:p.Ser142Arg
XM_011511064.1:c.150C>A	XP_011509366.1:p.Ser50Arg
XM_011511064.2:c.150C>A	XP_011509366.1:p.Ser50Arg
XM_017003948.1:c.426C>A	XP_016859437.1:p.Ser142Arg
XR_001739719.1:n.232-5983G>T
XR_002959286.1:n.915C>A
NM_006895.3:c.528C>A MANE Select	NP_008826.1:p.Ser176Arg