Canonical Allele Identifier: CA348477820
Gene: HNMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.138002102T>C , CM000664.2:g.138002102T>C GRCh38
NC_000002.11:g.138759672T>C , CM000664.1:g.138759672T>C GRCh37
NC_000002.10:g.138476142T>C NCBI36
NG_012966.1:g.42865T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000280097.5:c.337T>C MANE Select ENSP00000280097.3:p.Phe113Leu
ENST00000280097.4:c.337T>C ENSP00000280097.3:p.Phe113Leu
ENST00000410115.5:c.337T>C ENSP00000386940.1:p.Phe113Leu
ENST00000467390.5:n.349T>C
ENST00000485653.1:n.269T>C
NM_006895.2:c.337T>C NP_008826.1:p.Phe113Leu
XM_011511063.1:c.235T>C XP_011509365.1:p.Phe79Leu
XM_011511064.1:c.-42T>C XP_011509366.1:n.-42T>C
XM_011511064.2:c.-42T>C XP_011509366.1:n.-42T>C
XM_017003948.1:c.235T>C XP_016859437.1:p.Phe79Leu
XM_017003949.2:c.337T>C XP_016859438.1:p.Phe113Leu
XR_001739719.1:n.1039+4887A>G
XR_002959286.1:n.724T>C
NM_006895.3:c.337T>C MANE Select NP_008826.1:p.Phe113Leu