Canonical Allele Identifier: CA375778063
Community Standard Title: NM_024757.5(EHMT1):c.2026G>C (p.Gly676Arg)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137777889G>C , CM000671.2:g.137777889G>C GRCh38
NC_000009.11:g.140672341G>C , CM000671.1:g.140672341G>C GRCh37
NC_000009.10:g.139792162G>C NCBI36
NG_011776.1:g.163898G>C

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2026G>C MANE Select NP_079033.4:p.Gly676Arg
ENST00000460843.6:c.2026G>C MANE Select ENSP00000417980.1:p.Gly676Arg
NM_001145527.1:c.2026G>C NP_001138999.1:p.Gly676Arg
NM_001145527.2:c.2026G>C NP_001138999.1:p.Gly676Arg
NM_001354259.1:c.1933G>C NP_001341188.1:p.Gly645Arg
NM_001354259.2:c.1933G>C NP_001341188.1:p.Gly645Arg
NM_001354263.1:c.2005G>C NP_001341192.1:p.Gly669Arg
NM_001354263.2:c.2005G>C NP_001341192.1:p.Gly669Arg
NM_024757.4:c.2026G>C NP_079033.4:p.Gly676Arg
ENST00000371394.6:c.*1761G>C ENSP00000485945.1:n.*1761G>C
ENST00000460843.5:c.2026G>C ENSP00000417980.1:p.Gly676Arg
ENST00000462484.5:c.2026G>C ENSP00000417328.1:p.Gly676Arg
ENST00000462942.3:c.883G>C ENSP00000436107.1:p.Gly295Arg
ENST00000626603.1:n.1061-501C>G
ENST00000636027.1:c.1912G>C ENSP00000489961.1:p.Gly638Arg
ENST00000637161.1:c.1933G>C ENSP00000490328.1:p.Gly645Arg
ENST00000637261.1:c.2066G>C ENSP00000490815.1:n.2066G>C
ENST00000638071.1:c.1653G>C
XM_005266105.3:c.2017G>C XP_005266162.1:p.Gly673Arg
XM_005266105.5:c.2017G>C XP_005266162.1:p.Gly673Arg
XM_005266110.1:c.1933G>C XP_005266167.1:p.Gly645Arg
XM_006717288.2:c.2008G>C XP_006717351.1:p.Gly670Arg
XM_011519021.1:c.2035G>C XP_011517323.1:p.Gly679Arg
XM_011519021.3:c.2035G>C XP_011517323.1:p.Gly679Arg
XM_011519022.1:c.2032G>C XP_011517324.1:p.Gly678Arg
XM_011519022.3:c.2032G>C XP_011517324.1:p.Gly678Arg
XM_011519023.1:c.2014G>C XP_011517325.1:p.Gly672Arg
XM_011519023.3:c.2014G>C XP_011517325.1:p.Gly672Arg
XM_011519024.1:c.1957G>C XP_011517326.1:p.Gly653Arg
XM_011519025.1:c.1933G>C XP_011517327.1:p.Gly645Arg
XM_011519026.1:c.1891G>C XP_011517328.1:p.Gly631Arg
XM_011519027.1:c.2035G>C XP_011517329.1:p.Gly679Arg
XM_011519028.1:c.2035G>C XP_011517330.1:p.Gly679Arg
XM_011519029.1:c.457G>C XP_011517331.1:p.Gly153Arg
XM_011519029.3:c.457G>C XP_011517331.1:p.Gly153Arg
XM_011519033.1:c.1870G>C XP_011517335.1:p.Gly624Arg
XM_017015134.1:c.2011G>C XP_016870623.1:p.Gly671Arg
XM_017015136.2:c.1927G>C XP_016870625.1:p.Gly643Arg
XM_017015137.1:c.1912G>C XP_016870626.1:p.Gly638Arg
XM_017015138.1:c.1912G>C XP_016870627.1:p.Gly638Arg
XM_024447674.1:c.1855G>C XP_024303442.1:p.Gly619Arg
XM_024447675.1:c.1789G>C XP_024303443.1:p.Gly597Arg
XM_024447676.1:c.1150G>C XP_024303444.1:p.Gly384Arg
XM_024447677.1:c.1150G>C XP_024303445.1:p.Gly384Arg
XM_024447678.1:c.1933G>C XP_024303446.1:p.Gly645Arg
XM_024447679.1:c.1933G>C XP_024303447.1:p.Gly645Arg
XM_024447680.1:c.1768G>C XP_024303448.1:p.Gly590Arg