Canonical Allele Identifier: CA3810704

Gene: GNMT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42963074G>A , CM000668.2:g.42963074G>A	GRCh38
NC_000006.11:g.42930812G>A , CM000668.1:g.42930812G>A	GRCh37
NC_000006.10:g.43038790G>A	NCBI36
NG_008370.1:g.21170C>T
NG_008396.1:g.7313G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018960.6:c.454G>A MANE Select	NP_061833.1:p.Asp152Asn
ENST00000372808.4:c.454G>A MANE Select	ENSP00000361894.3:p.Asp152Asn
NM_001318856.1:c.256G>A	NP_001305785.1:p.Asp86Asn
NM_001318856.2:c.256G>A	NP_001305785.1:p.Asp86Asn
NM_001318857.1:c.271G>A	NP_001305786.1:p.Asp91Asn
NM_001318857.2:c.271G>A	NP_001305786.1:p.Asp91Asn
NM_001318858.1:c.269-106G>A	NP_001305787.1:n.269-106G>A
NM_001318858.2:c.269-106G>A	NP_001305787.1:n.269-106G>A
NM_001318865.1:c.452-55G>A	NP_001305794.1:n.452-55G>A
NM_001318865.2:c.452-55G>A	NP_001305794.1:n.452-55G>A
NM_018960.4:c.454G>A	NP_061833.1:p.Asp152Asn
NM_018960.5:c.454G>A	NP_061833.1:p.Asp152Asn
NR_134890.1:n.806+196G>A
NR_134890.2:n.456+196G>A
NR_134891.1:n.709+196G>A
NR_134891.2:n.359+196G>A
NR_134892.1:n.837+196G>A
NR_134892.2:n.487+196G>A
NR_134899.1:n.465+196G>A
NR_134899.2:n.465+196G>A
ENST00000372808.3:c.454G>A	ENSP00000361894.3:p.Asp152Asn
XM_011514493.1:c.235G>A	XP_011512795.1:p.Asp79Asn
XM_011514494.1:c.235G>A	XP_011512796.1:p.Asp79Asn