Canonical Allele Identifier: CA375775682

Gene: EHMT1

Linked Data

• dbSNP Id: rs1162760093
• gnomAD v2: 9-140671097-A-G
• gnomAD v4: 9-137776645-A-G
• MyVariant Identifiers: chr9:g.140671097A>G (hg19) ; chr9:g.137776645A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137776645A>G , CM000671.2:g.137776645A>G	GRCh38
NC_000009.11:g.140671097A>G , CM000671.1:g.140671097A>G	GRCh37
NC_000009.10:g.139790918A>G	NCBI36
NG_011776.1:g.162654A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000460843.6:c.1819A>G MANE Select	ENSP00000417980.1:p.Ser607Gly
ENST00000636027.1:c.1705A>G	ENSP00000489961.1:p.Ser569Gly
ENST00000637161.1:c.1726A>G	ENSP00000490328.1:p.Ser576Gly
ENST00000637261.1:c.1859A>G	ENSP00000490815.1:n.1859A>G
ENST00000638071.1:c.1446A>G
ENST00000640639.1:c.988A>G	ENSP00000491823.1:p.Ser330Gly
ENST00000371394.6:c.*1554A>G	ENSP00000485945.1:n.*1554A>G
ENST00000460843.5:c.1819A>G	ENSP00000417980.1:p.Ser607Gly
ENST00000462484.5:c.1819A>G	ENSP00000417328.1:p.Ser607Gly
ENST00000462942.3:c.676A>G	ENSP00000436107.1:p.Ser226Gly
ENST00000465566.2:c.367A>G	ENSP00000486261.1:p.Ser123Gly
ENST00000626603.1:n.1804T>C
NM_001145527.1:c.1819A>G	NP_001138999.1:p.Ser607Gly
NM_024757.4:c.1819A>G	NP_079033.4:p.Ser607Gly
XM_005266105.3:c.1810A>G	XP_005266162.1:p.Ser604Gly
XM_005266110.1:c.1726A>G	XP_005266167.1:p.Ser576Gly
XM_006717288.2:c.1801A>G	XP_006717351.1:p.Ser601Gly
XM_011519021.1:c.1828A>G	XP_011517323.1:p.Ser610Gly
XM_011519022.1:c.1825A>G	XP_011517324.1:p.Ser609Gly
XM_011519023.1:c.1807A>G	XP_011517325.1:p.Ser603Gly
XM_011519024.1:c.1750A>G	XP_011517326.1:p.Ser584Gly
XM_011519025.1:c.1726A>G	XP_011517327.1:p.Ser576Gly
XM_011519026.1:c.1684A>G	XP_011517328.1:p.Ser562Gly
XM_011519027.1:c.1828A>G	XP_011517329.1:p.Ser610Gly
XM_011519028.1:c.1828A>G	XP_011517330.1:p.Ser610Gly
XM_011519029.1:c.250A>G	XP_011517331.1:p.Ser84Gly
XM_011519033.1:c.1663A>G	XP_011517335.1:p.Ser555Gly
NM_001354259.1:c.1726A>G	NP_001341188.1:p.Ser576Gly
NM_001354263.1:c.1798A>G	NP_001341192.1:p.Ser600Gly
XM_005266105.5:c.1810A>G	XP_005266162.1:p.Ser604Gly
XM_011519021.3:c.1828A>G	XP_011517323.1:p.Ser610Gly
XM_011519022.3:c.1825A>G	XP_011517324.1:p.Ser609Gly
XM_011519023.3:c.1807A>G	XP_011517325.1:p.Ser603Gly
XM_011519029.3:c.250A>G	XP_011517331.1:p.Ser84Gly
XM_017015134.1:c.1804A>G	XP_016870623.1:p.Ser602Gly
XM_017015136.2:c.1720A>G	XP_016870625.1:p.Ser574Gly
XM_017015137.1:c.1705A>G	XP_016870626.1:p.Ser569Gly
XM_017015138.1:c.1705A>G	XP_016870627.1:p.Ser569Gly
XM_024447674.1:c.1648A>G	XP_024303442.1:p.Ser550Gly
XM_024447675.1:c.1582A>G	XP_024303443.1:p.Ser528Gly
XM_024447676.1:c.943A>G	XP_024303444.1:p.Ser315Gly
XM_024447677.1:c.943A>G	XP_024303445.1:p.Ser315Gly
XM_024447678.1:c.1726A>G	XP_024303446.1:p.Ser576Gly
XM_024447679.1:c.1726A>G	XP_024303447.1:p.Ser576Gly
XM_024447680.1:c.1561A>G	XP_024303448.1:p.Ser521Gly
NM_024757.5:c.1819A>G MANE Select	NP_079033.4:p.Ser607Gly
NM_001145527.2:c.1819A>G	NP_001138999.1:p.Ser607Gly
NM_001354259.2:c.1726A>G	NP_001341188.1:p.Ser576Gly
NM_001354263.2:c.1798A>G	NP_001341192.1:p.Ser600Gly