Canonical Allele Identifier: CA348472877

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138771354G>C (hg19) ; chr2:g.138013784G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013784G>C , CM000664.2:g.138013784G>C	GRCh38
NC_000002.11:g.138771354G>C , CM000664.1:g.138771354G>C	GRCh37
NC_000002.10:g.138487824G>C	NCBI36
NG_012966.1:g.54547G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.533G>C MANE Select	ENSP00000280097.3:p.Gly178Ala
ENST00000280097.4:c.533G>C	ENSP00000280097.3:p.Gly178Ala
ENST00000410115.5:c.533G>C	ENSP00000386940.1:p.Gly178Ala
ENST00000485653.1:n.465G>C
NM_006895.2:c.533G>C	NP_008826.1:p.Gly178Ala
XM_011511063.1:c.431G>C	XP_011509365.1:p.Gly144Ala
XM_011511064.1:c.155G>C	XP_011509366.1:p.Gly52Ala
XM_011511064.2:c.155G>C	XP_011509366.1:p.Gly52Ala
XM_017003948.1:c.431G>C	XP_016859437.1:p.Gly144Ala
XR_001739719.1:n.232-5988C>G
XR_002959286.1:n.920G>C
NM_006895.3:c.533G>C MANE Select	NP_008826.1:p.Gly178Ala