Canonical Allele Identifier: CA348477806

Gene: HNMT

Linked Data

• gnomAD v4: 2-138002096-G-C
• MyVariant Identifiers: chr2:g.138759666G>C (hg19) ; chr2:g.138002096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002096G>C , CM000664.2:g.138002096G>C	GRCh38
NC_000002.11:g.138759666G>C , CM000664.1:g.138759666G>C	GRCh37
NC_000002.10:g.138476136G>C	NCBI36
NG_012966.1:g.42859G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.331G>C MANE Select	ENSP00000280097.3:p.Val111Leu
ENST00000280097.4:c.331G>C	ENSP00000280097.3:p.Val111Leu
ENST00000410115.5:c.331G>C	ENSP00000386940.1:p.Val111Leu
ENST00000467390.5:n.343G>C
ENST00000485653.1:n.263G>C
NM_006895.2:c.331G>C	NP_008826.1:p.Val111Leu
XM_011511063.1:c.229G>C	XP_011509365.1:p.Val77Leu
XM_011511064.1:c.-48G>C	XP_011509366.1:n.-48G>C
XM_011511064.2:c.-48G>C	XP_011509366.1:n.-48G>C
XM_017003948.1:c.229G>C	XP_016859437.1:p.Val77Leu
XM_017003949.2:c.331G>C	XP_016859438.1:p.Val111Leu
XR_001739719.1:n.1039+4893C>G
XR_002959286.1:n.718G>C
NM_006895.3:c.331G>C MANE Select	NP_008826.1:p.Val111Leu