Canonical Allele Identifier: CA429193282

Gene: HNMT

Linked Data

• dbSNP Id: rs1681584804
• gnomAD v3: 2-138013887-G-T
• gnomAD v4: 2-138013887-G-T
• MyVariant Identifiers: chr2:g.138771457G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013887G>T , CM000664.2:g.138013887G>T	GRCh38
NC_000002.11:g.138771457G>T , CM000664.1:g.138771457G>T	GRCh37
NC_000002.10:g.138487927G>T	NCBI36
NG_012966.1:g.54650G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.636G>T MANE Select	ENSP00000280097.3:p.Gly212=
ENST00000280097.4:c.636G>T	ENSP00000280097.3:p.Gly212=
ENST00000410115.5:c.636G>T	ENSP00000386940.1:p.Gly212=
ENST00000485653.1:n.568G>T
NM_006895.2:c.636G>T	NP_008826.1:p.Gly212=
XM_011511063.1:c.534G>T	XP_011509365.1:p.Gly178=
XM_011511064.1:c.258G>T	XP_011509366.1:p.Gly86=
XM_011511064.2:c.258G>T	XP_011509366.1:p.Gly86=
XM_017003948.1:c.534G>T	XP_016859437.1:p.Gly178=
XR_001739719.1:n.232-6091C>A
XR_002959286.1:n.1023G>T
NM_006895.3:c.636G>T MANE Select	NP_008826.1:p.Gly212=