Canonical Allele Identifier: CA348473476

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138771446G>C (hg19) ; chr2:g.138013876G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013876G>C , CM000664.2:g.138013876G>C	GRCh38
NC_000002.11:g.138771446G>C , CM000664.1:g.138771446G>C	GRCh37
NC_000002.10:g.138487916G>C	NCBI36
NG_012966.1:g.54639G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.625G>C MANE Select	ENSP00000280097.3:p.Asp209His
ENST00000280097.4:c.625G>C	ENSP00000280097.3:p.Asp209His
ENST00000410115.5:c.625G>C	ENSP00000386940.1:p.Asp209His
ENST00000485653.1:n.557G>C
NM_006895.2:c.625G>C	NP_008826.1:p.Asp209His
XM_011511063.1:c.523G>C	XP_011509365.1:p.Asp175His
XM_011511064.1:c.247G>C	XP_011509366.1:p.Asp83His
XM_011511064.2:c.247G>C	XP_011509366.1:p.Asp83His
XM_017003948.1:c.523G>C	XP_016859437.1:p.Asp175His
XR_001739719.1:n.232-6080C>G
XR_002959286.1:n.1012G>C
NM_006895.3:c.625G>C MANE Select	NP_008826.1:p.Asp209His