Canonical Allele Identifier: CA757670024

Gene: HNMT

Linked Data

• dbSNP Id: rs1267073257
• gnomAD v4: 2-138001916-G-A
• MyVariant Identifiers: chr2:g.138759486G>A (hg19) ; chr2:g.138001916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138001916G>A , CM000664.2:g.138001916G>A	GRCh38
NC_000002.11:g.138759486G>A , CM000664.1:g.138759486G>A	GRCh37
NC_000002.10:g.138475956G>A	NCBI36
NG_012966.1:g.42679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280097.5:c.299-148G>A MANE Select	ENSP00000280097.3:n.299-148G>A
ENST00000280097.4:c.299-148G>A	ENSP00000280097.3:n.299-148G>A
ENST00000410115.5:c.299-148G>A	ENSP00000386940.1:n.299-148G>A
ENST00000467390.5:n.311-148G>A
ENST00000485653.1:n.231-148G>A
NM_006895.2:c.299-148G>A	NP_008826.1:n.299-148G>A
XM_011511063.1:c.197-148G>A	XP_011509365.1:n.197-148G>A
XM_011511064.1:c.-80-148G>A	XP_011509366.1:n.-80-148G>A
XM_011511064.2:c.-80-148G>A	XP_011509366.1:n.-80-148G>A
XM_017003948.1:c.197-148G>A	XP_016859437.1:n.197-148G>A
XM_017003949.2:c.299-148G>A	XP_016859438.1:n.299-148G>A
XR_001739719.1:n.1039+5073C>T
XR_002959286.1:n.686-148G>A
NM_006895.3:c.299-148G>A MANE Select	NP_008826.1:n.299-148G>A