Canonical Allele Identifier: CA348477778

Gene: HNMT

Linked Data

• gnomAD v4: 2-138002081-T-G
• MyVariant Identifiers: chr2:g.138759651T>G (hg19) ; chr2:g.138002081T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002081T>G , CM000664.2:g.138002081T>G	GRCh38
NC_000002.11:g.138759651T>G , CM000664.1:g.138759651T>G	GRCh37
NC_000002.10:g.138476121T>G	NCBI36
NG_012966.1:g.42844T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.316T>G MANE Select	ENSP00000280097.3:p.Ser106Ala
ENST00000280097.4:c.316T>G	ENSP00000280097.3:p.Ser106Ala
ENST00000410115.5:c.316T>G	ENSP00000386940.1:p.Ser106Ala
ENST00000467390.5:n.328T>G
ENST00000485653.1:n.248T>G
NM_006895.2:c.316T>G	NP_008826.1:p.Ser106Ala
XM_011511063.1:c.214T>G	XP_011509365.1:p.Ser72Ala
XM_011511064.1:c.-63T>G	XP_011509366.1:n.-63T>G
XM_011511064.2:c.-63T>G	XP_011509366.1:n.-63T>G
XM_017003948.1:c.214T>G	XP_016859437.1:p.Ser72Ala
XM_017003949.2:c.316T>G	XP_016859438.1:p.Ser106Ala
XR_001739719.1:n.1039+4908A>C
XR_002959286.1:n.703T>G
NM_006895.3:c.316T>G MANE Select	NP_008826.1:p.Ser106Ala