Canonical Allele Identifier: CA450365533

Gene: GNMT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42963139G>C , CM000668.2:g.42963139G>C	GRCh38
NC_000006.11:g.42930877G>C , CM000668.1:g.42930877G>C	GRCh37
NC_000006.10:g.43038855G>C	NCBI36
NG_008370.1:g.21105C>G
NG_008396.1:g.7378G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018960.6:c.519G>C MANE Select	NP_061833.1:p.Leu173=
ENST00000372808.4:c.519G>C MANE Select	ENSP00000361894.3:p.Leu173=
NM_001318856.1:c.321G>C	NP_001305785.1:p.Leu107=
NM_001318856.2:c.321G>C	NP_001305785.1:p.Leu107=
NM_001318857.1:c.336G>C	NP_001305786.1:p.Leu112=
NM_001318857.2:c.336G>C	NP_001305786.1:p.Leu112=
NM_001318858.1:c.269-41G>C	NP_001305787.1:n.269-41G>C
NM_001318858.2:c.269-41G>C	NP_001305787.1:n.269-41G>C
NM_001318865.1:c.462G>C	NP_001305794.1:p.Leu154=
NM_001318865.2:c.462G>C	NP_001305794.1:p.Leu154=
NM_018960.4:c.519G>C	NP_061833.1:p.Leu173=
NM_018960.5:c.519G>C	NP_061833.1:p.Leu173=
NR_134890.1:n.807-189G>C
NR_134890.2:n.457-189G>C
NR_134891.1:n.710-189G>C
NR_134891.2:n.360-189G>C
NR_134892.1:n.838-189G>C
NR_134892.2:n.488-189G>C
NR_134899.1:n.466-189G>C
NR_134899.2:n.466-189G>C
ENST00000372808.3:c.519G>C	ENSP00000361894.3:p.Leu173=
XM_011514493.1:c.300G>C	XP_011512795.1:p.Leu100=
XM_011514494.1:c.300G>C	XP_011512796.1:p.Leu100=