Canonical Allele Identifier: CA348477829

Gene: HNMT

Linked Data

• gnomAD v4: 2-138002105-G-T
• MyVariant Identifiers: chr2:g.138759675G>T (hg19) ; chr2:g.138002105G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.138002105G>T , CM000664.2:g.138002105G>T	GRCh38
NC_000002.11:g.138759675G>T , CM000664.1:g.138759675G>T	GRCh37
NC_000002.10:g.138476145G>T	NCBI36
NG_012966.1:g.42868G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000280097.5:c.340G>T MANE Select	ENSP00000280097.3:p.Ala114Ser
ENST00000280097.4:c.340G>T	ENSP00000280097.3:p.Ala114Ser
ENST00000410115.5:c.340G>T	ENSP00000386940.1:p.Ala114Ser
ENST00000467390.5:n.352G>T
ENST00000485653.1:n.272G>T
NM_006895.2:c.340G>T	NP_008826.1:p.Ala114Ser
XM_011511063.1:c.238G>T	XP_011509365.1:p.Ala80Ser
XM_011511064.1:c.-39G>T	XP_011509366.1:n.-39G>T
XM_011511064.2:c.-39G>T	XP_011509366.1:n.-39G>T
XM_017003948.1:c.238G>T	XP_016859437.1:p.Ala80Ser
XM_017003949.2:c.340G>T	XP_016859438.1:p.Ala114Ser
XR_001739719.1:n.1039+4884C>A
XR_002959286.1:n.727G>T
NM_006895.3:c.340G>T MANE Select	NP_008826.1:p.Ala114Ser