Canonical Allele Identifier: CA348472835

Gene: HNMT

Linked Data

• dbSNP Id: rs1235750533
• gnomAD v2: 2-138771350-A-C
• gnomAD v4: 2-138013780-A-C
• MyVariant Identifiers: chr2:g.138771350A>C (hg19) ; chr2:g.138013780A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013780A>C , CM000664.2:g.138013780A>C	GRCh38
NC_000002.11:g.138771350A>C , CM000664.1:g.138771350A>C	GRCh37
NC_000002.10:g.138487820A>C	NCBI36
NG_012966.1:g.54543A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.529A>C MANE Select	ENSP00000280097.3:p.Ser177Arg
ENST00000280097.4:c.529A>C	ENSP00000280097.3:p.Ser177Arg
ENST00000410115.5:c.529A>C	ENSP00000386940.1:p.Ser177Arg
ENST00000485653.1:n.461A>C
NM_006895.2:c.529A>C	NP_008826.1:p.Ser177Arg
XM_011511063.1:c.427A>C	XP_011509365.1:p.Ser143Arg
XM_011511064.1:c.151A>C	XP_011509366.1:p.Ser51Arg
XM_011511064.2:c.151A>C	XP_011509366.1:p.Ser51Arg
XM_017003948.1:c.427A>C	XP_016859437.1:p.Ser143Arg
XR_001739719.1:n.232-5984T>G
XR_002959286.1:n.916A>C
NM_006895.3:c.529A>C MANE Select	NP_008826.1:p.Ser177Arg