Canonical Allele Identifier: CA348473523

Gene: HNMT

Linked Data

• MyVariant Identifiers: chr2:g.138771453T>C (hg19) ; chr2:g.138013883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138013883T>C , CM000664.2:g.138013883T>C	GRCh38
NC_000002.11:g.138771453T>C , CM000664.1:g.138771453T>C	GRCh37
NC_000002.10:g.138487923T>C	NCBI36
NG_012966.1:g.54646T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.632T>C MANE Select	ENSP00000280097.3:p.Leu211Pro
ENST00000280097.4:c.632T>C	ENSP00000280097.3:p.Leu211Pro
ENST00000410115.5:c.632T>C	ENSP00000386940.1:p.Leu211Pro
ENST00000485653.1:n.564T>C
NM_006895.2:c.632T>C	NP_008826.1:p.Leu211Pro
XM_011511063.1:c.530T>C	XP_011509365.1:p.Leu177Pro
XM_011511064.1:c.254T>C	XP_011509366.1:p.Leu85Pro
XM_011511064.2:c.254T>C	XP_011509366.1:p.Leu85Pro
XM_017003948.1:c.530T>C	XP_016859437.1:p.Leu177Pro
XR_001739719.1:n.232-6087A>G
XR_002959286.1:n.1019T>C
NM_006895.3:c.632T>C MANE Select	NP_008826.1:p.Leu211Pro