Canonical Allele Identifier: CA348477811

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138759669A>C (hg19) ; chr2:g.138002099A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002099A>C , CM000664.2:g.138002099A>C	GRCh38
NC_000002.11:g.138759669A>C , CM000664.1:g.138759669A>C	GRCh37
NC_000002.10:g.138476139A>C	NCBI36
NG_012966.1:g.42862A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280097.5:c.334A>C MANE Select	ENSP00000280097.3:p.Lys112Gln
ENST00000280097.4:c.334A>C	ENSP00000280097.3:p.Lys112Gln
ENST00000410115.5:c.334A>C	ENSP00000386940.1:p.Lys112Gln
ENST00000467390.5:n.346A>C
ENST00000485653.1:n.266A>C
NM_006895.2:c.334A>C	NP_008826.1:p.Lys112Gln
XM_011511063.1:c.232A>C	XP_011509365.1:p.Lys78Gln
XM_011511064.1:c.-45A>C	XP_011509366.1:n.-45A>C
XM_011511064.2:c.-45A>C	XP_011509366.1:n.-45A>C
XM_017003948.1:c.232A>C	XP_016859437.1:p.Lys78Gln
XM_017003949.2:c.334A>C	XP_016859438.1:p.Lys112Gln
XR_001739719.1:n.1039+4890T>G
XR_002959286.1:n.721A>C
NM_006895.3:c.334A>C MANE Select	NP_008826.1:p.Lys112Gln