Canonical Allele Identifier: CA1891810

Gene: HNMT

Linked Data

• ClinVar Variation Id: 2432492
• ClinVar RCV Id: RCV003135592
• dbSNP Id: rs764526734
• ExAC: 2:138771355 C / T
• gnomAD v2: 2-138771355-C-T
• gnomAD v3: 2-138013785-C-T
• gnomAD v4: 2-138013785-C-T
• MyVariant Identifiers: chr2:g.138771355C>T (hg19) ; chr2:g.138013785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013785C>T , CM000664.2:g.138013785C>T	GRCh38
NC_000002.11:g.138771355C>T , CM000664.1:g.138771355C>T	GRCh37
NC_000002.10:g.138487825C>T	NCBI36
NG_012966.1:g.54548C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.534C>T MANE Select	ENSP00000280097.3:p.Gly178=
ENST00000280097.4:c.534C>T	ENSP00000280097.3:p.Gly178=
ENST00000410115.5:c.534C>T	ENSP00000386940.1:p.Gly178=
ENST00000485653.1:n.466C>T
NM_006895.2:c.534C>T	NP_008826.1:p.Gly178=
XM_011511063.1:c.432C>T	XP_011509365.1:p.Gly144=
XM_011511064.1:c.156C>T	XP_011509366.1:p.Gly52=
XM_011511064.2:c.156C>T	XP_011509366.1:p.Gly52=
XM_017003948.1:c.432C>T	XP_016859437.1:p.Gly144=
XR_001739719.1:n.232-5989G>A
XR_002959286.1:n.921C>T
NM_006895.3:c.534C>T MANE Select	NP_008826.1:p.Gly178=