Canonical Allele Identifier: CA214746
Gene: HNMT HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5160
ClinVar RCV Id: RCV000005467
dbSNP Id: rs11558538

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.138002079C>T , CM000664.2:g.138002079C>T GRCh38
NC_000002.11:g.138759649C>T , CM000664.1:g.138759649C>T GRCh37
NC_000002.10:g.138476119C>T NCBI36
NG_012966.1:g.42842C>T

Transcript Alleles

HGVS Amino-acid change
NM_006895.2:c.314C>T VV NP_008826.1:p.Thr105Ile
XM_011511063.1:c.212C>T XP_011509365.1:p.Thr71Ile
XM_011511064.1:c.-65C>T XP_011509366.1:p.=
XM_011511064.2:c.-65C>T
XM_017003948.1:c.212C>T XP_016859437.1:p.Thr71Ile
XM_017003949.2:c.314C>T XP_016859438.1:p.Thr105Ile
XR_001739719.1:n.1039+4910G>A
XR_002959286.1:n.701C>T
NM_006895.3:c.314C>T VV MANE Preferred
ENST00000280097.4:c.314C>T ENSP00000280097.3:p.Thr105Ile
ENST00000410115.5:c.314C>T ENSP00000386940.1:p.Thr105Ile
ENST00000467390.5:n.326C>T
ENST00000485653.1:n.246C>T