Canonical Allele Identifier: CA757662151

Gene: HNMT

Linked Data

• dbSNP Id: rs1282928538
• gnomAD v3: 2-137988374-T-C
• gnomAD v4: 2-137988374-T-C
• MyVariant Identifiers: chr2:g.138745944T>C (hg19) ; chr2:g.137988374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.137988374T>C , CM000664.2:g.137988374T>C	GRCh38
NC_000002.11:g.138745944T>C , CM000664.1:g.138745944T>C	GRCh37
NC_000002.10:g.138462414T>C	NCBI36
NG_012966.1:g.29137T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.191-12544T>C MANE Select	ENSP00000280097.3:n.191-12544T>C
ENST00000280097.4:c.191-12544T>C	ENSP00000280097.3:n.191-12544T>C
ENST00000410115.5:c.191-12544T>C	ENSP00000386940.1:n.191-12544T>C
ENST00000467390.5:n.203-12544T>C
ENST00000475675.5:c.*456-3442T>C	ENSP00000419415.1:n.*456-3442T>C
ENST00000480534.1:n.169-191T>C
ENST00000485653.1:n.123-12544T>C
NM_006895.2:c.191-12544T>C	NP_008826.1:n.191-12544T>C
XM_011511063.1:c.89-12544T>C	XP_011509365.1:n.89-12544T>C
XM_011511064.1:c.-188-12544T>C	XP_011509366.1:n.-188-12544T>C
XM_011511064.2:c.-188-12544T>C	XP_011509366.1:n.-188-12544T>C
XM_017003948.1:c.89-12544T>C	XP_016859437.1:n.89-12544T>C
XM_017003949.2:c.191-12544T>C	XP_016859438.1:n.191-12544T>C
XR_001739719.1:n.1040-7695A>G
XR_002959286.1:n.578-12544T>C
NM_006895.3:c.191-12544T>C MANE Select	NP_008826.1:n.191-12544T>C