Canonical Allele Identifier: CA364146625

Gene: GNMT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42963158T>C , CM000668.2:g.42963158T>C	GRCh38
NC_000006.11:g.42930896T>C , CM000668.1:g.42930896T>C	GRCh37
NC_000006.10:g.43038874T>C	NCBI36
NG_008370.1:g.21086A>G
NG_008396.1:g.7397T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018960.6:c.538T>C MANE Select	NP_061833.1:p.Tyr180His
ENST00000372808.4:c.538T>C MANE Select	ENSP00000361894.3:p.Tyr180His
NM_001318856.1:c.340T>C	NP_001305785.1:p.Tyr114His
NM_001318856.2:c.340T>C	NP_001305785.1:p.Tyr114His
NM_001318857.1:c.355T>C	NP_001305786.1:p.Tyr119His
NM_001318857.2:c.355T>C	NP_001305786.1:p.Tyr119His
NM_001318858.1:c.269-22T>C	NP_001305787.1:n.269-22T>C
NM_001318858.2:c.269-22T>C	NP_001305787.1:n.269-22T>C
NM_001318865.1:c.481T>C	NP_001305794.1:p.Tyr161His
NM_001318865.2:c.481T>C	NP_001305794.1:p.Tyr161His
NM_018960.4:c.538T>C	NP_061833.1:p.Tyr180His
NM_018960.5:c.538T>C	NP_061833.1:p.Tyr180His
NR_134890.1:n.807-170T>C
NR_134890.2:n.457-170T>C
NR_134891.1:n.710-170T>C
NR_134891.2:n.360-170T>C
NR_134892.1:n.838-170T>C
NR_134892.2:n.488-170T>C
NR_134899.1:n.466-170T>C
NR_134899.2:n.466-170T>C
ENST00000372808.3:c.538T>C	ENSP00000361894.3:p.Tyr180His
XM_011514493.1:c.319T>C	XP_011512795.1:p.Tyr107His
XM_011514494.1:c.319T>C	XP_011512796.1:p.Tyr107His