Canonical Allele Identifier: CA348477809

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138759667T>C (hg19) ; chr2:g.138002097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002097T>C , CM000664.2:g.138002097T>C	GRCh38
NC_000002.11:g.138759667T>C , CM000664.1:g.138759667T>C	GRCh37
NC_000002.10:g.138476137T>C	NCBI36
NG_012966.1:g.42860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280097.5:c.332T>C MANE Select	ENSP00000280097.3:p.Val111Ala
ENST00000280097.4:c.332T>C	ENSP00000280097.3:p.Val111Ala
ENST00000410115.5:c.332T>C	ENSP00000386940.1:p.Val111Ala
ENST00000467390.5:n.344T>C
ENST00000485653.1:n.264T>C
NM_006895.2:c.332T>C	NP_008826.1:p.Val111Ala
XM_011511063.1:c.230T>C	XP_011509365.1:p.Val77Ala
XM_011511064.1:c.-47T>C	XP_011509366.1:n.-47T>C
XM_011511064.2:c.-47T>C	XP_011509366.1:n.-47T>C
XM_017003948.1:c.230T>C	XP_016859437.1:p.Val77Ala
XM_017003949.2:c.332T>C	XP_016859438.1:p.Val111Ala
XR_001739719.1:n.1039+4892A>G
XR_002959286.1:n.719T>C
NM_006895.3:c.332T>C MANE Select	NP_008826.1:p.Val111Ala