Canonical Allele Identifier: CA57014315

Gene: HNMT

Linked Data

• dbSNP Id: rs533404014
• gnomAD v3: 2-138002006-A-T
• gnomAD v4: 2-138002006-A-T
• MyVariant Identifiers: chr2:g.138759576A>T (hg19) ; chr2:g.138002006A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002006A>T , CM000664.2:g.138002006A>T	GRCh38
NC_000002.11:g.138759576A>T , CM000664.1:g.138759576A>T	GRCh37
NC_000002.10:g.138476046A>T	NCBI36
NG_012966.1:g.42769A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.299-58A>T MANE Select	ENSP00000280097.3:n.299-58A>T
ENST00000280097.4:c.299-58A>T	ENSP00000280097.3:n.299-58A>T
ENST00000410115.5:c.299-58A>T	ENSP00000386940.1:n.299-58A>T
ENST00000467390.5:n.311-58A>T
ENST00000485653.1:n.231-58A>T
NM_006895.2:c.299-58A>T	NP_008826.1:n.299-58A>T
XM_011511063.1:c.197-58A>T	XP_011509365.1:n.197-58A>T
XM_011511064.1:c.-80-58A>T	XP_011509366.1:n.-80-58A>T
XM_011511064.2:c.-80-58A>T	XP_011509366.1:n.-80-58A>T
XM_017003948.1:c.197-58A>T	XP_016859437.1:n.197-58A>T
XM_017003949.2:c.299-58A>T	XP_016859438.1:n.299-58A>T
XR_001739719.1:n.1039+4983T>A
XR_002959286.1:n.686-58A>T
NM_006895.3:c.299-58A>T MANE Select	NP_008826.1:n.299-58A>T