Canonical Allele Identifier: CA15205279

Gene: HNMT

Linked Data

• dbSNP Id: rs17583889
• gnomAD v2: 2-138746039-C-A
• gnomAD v3: 2-137988469-C-A
• gnomAD v4: 2-137988469-C-A
• MyVariant Identifiers: chr2:g.138746039C>A (hg19) ; chr2:g.137988469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.137988469C>A , CM000664.2:g.137988469C>A	GRCh38
NC_000002.11:g.138746039C>A , CM000664.1:g.138746039C>A	GRCh37
NC_000002.10:g.138462509C>A	NCBI36
NG_012966.1:g.29232C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.191-12449C>A MANE Select	ENSP00000280097.3:n.191-12449C>A
ENST00000280097.4:c.191-12449C>A	ENSP00000280097.3:n.191-12449C>A
ENST00000410115.5:c.191-12449C>A	ENSP00000386940.1:n.191-12449C>A
ENST00000467390.5:n.203-12449C>A
ENST00000475675.5:c.*456-3347C>A	ENSP00000419415.1:n.*456-3347C>A
ENST00000480534.1:n.169-96C>A
ENST00000485653.1:n.123-12449C>A
NM_006895.2:c.191-12449C>A	NP_008826.1:n.191-12449C>A
XM_011511063.1:c.89-12449C>A	XP_011509365.1:n.89-12449C>A
XM_011511064.1:c.-188-12449C>A	XP_011509366.1:n.-188-12449C>A
XM_011511064.2:c.-188-12449C>A	XP_011509366.1:n.-188-12449C>A
XM_017003948.1:c.89-12449C>A	XP_016859437.1:n.89-12449C>A
XM_017003949.2:c.191-12449C>A	XP_016859438.1:n.191-12449C>A
XR_001739719.1:n.1040-7790G>T
XR_002959286.1:n.578-12449C>A
NM_006895.3:c.191-12449C>A MANE Select	NP_008826.1:n.191-12449C>A