Canonical Allele Identifier: CA375779357
Community Standard Title: NM_024757.5(EHMT1):c.1058C>G (p.Ser353Ter)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137743978C>G , CM000671.2:g.137743978C>G GRCh38
NC_000009.11:g.140638430C>G , CM000671.1:g.140638430C>G GRCh37
NC_000009.10:g.139758251C>G NCBI36
NG_011776.1:g.129987C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.1058C>G MANE Select NP_079033.4:p.Ser353Ter
ENST00000460843.6:c.1058C>G MANE Select ENSP00000417980.1:p.Ser353Ter
NM_001145527.1:c.1058C>G NP_001138999.1:p.Ser353Ter
NM_001145527.2:c.1058C>G NP_001138999.1:p.Ser353Ter
NM_001354259.1:c.965C>G NP_001341188.1:p.Ser322Ter
NM_001354259.2:c.965C>G NP_001341188.1:p.Ser322Ter
NM_001354263.1:c.1037C>G NP_001341192.1:p.Ser346Ter
NM_001354263.2:c.1037C>G NP_001341192.1:p.Ser346Ter
NM_001354611.1:c.1058C>G NP_001341540.1:p.Ser353Ter
NM_001354611.2:c.1058C>G NP_001341540.1:p.Ser353Ter
NM_001354612.1:c.965C>G NP_001341541.1:p.Ser322Ter
NM_001354612.2:c.965C>G NP_001341541.1:p.Ser322Ter
NM_024757.4:c.1058C>G NP_079033.4:p.Ser353Ter
ENST00000371394.6:c.*793C>G ENSP00000485945.1:n.*793C>G
ENST00000460843.5:c.1058C>G ENSP00000417980.1:p.Ser353Ter
ENST00000462484.5:c.1058C>G ENSP00000417328.1:p.Ser353Ter
ENST00000478940.1:n.349C>G
ENST00000495657.5:n.408C>G
ENST00000626066.2:c.961C>G
ENST00000629335.2:c.1058C>G ENSP00000490056.1:p.Ser353Ter
ENST00000629808.2:c.229C>G
ENST00000636027.1:c.944C>G ENSP00000489961.1:p.Ser315Ter
ENST00000637161.1:c.965C>G ENSP00000490328.1:p.Ser322Ter
ENST00000637261.1:c.1098C>G ENSP00000490815.1:n.1098C>G
ENST00000637318.1:c.182C>G ENSP00000490611.1:p.Ser61Ter
ENST00000637977.1:c.1003C>G
ENST00000638071.1:c.763C>G
ENST00000640639.1:c.227C>G ENSP00000491823.1:p.Ser76Ter
XM_005266105.3:c.1049C>G XP_005266162.1:p.Ser350Ter
XM_005266105.5:c.1049C>G XP_005266162.1:p.Ser350Ter
XM_005266110.1:c.965C>G XP_005266167.1:p.Ser322Ter
XM_006717288.2:c.1040C>G XP_006717351.1:p.Ser347Ter
XM_011519021.1:c.1067C>G XP_011517323.1:p.Ser356Ter
XM_011519021.3:c.1067C>G XP_011517323.1:p.Ser356Ter
XM_011519022.1:c.1064C>G XP_011517324.1:p.Ser355Ter
XM_011519022.3:c.1064C>G XP_011517324.1:p.Ser355Ter
XM_011519023.1:c.1046C>G XP_011517325.1:p.Ser349Ter
XM_011519023.3:c.1046C>G XP_011517325.1:p.Ser349Ter
XM_011519024.1:c.1067C>G XP_011517326.1:p.Ser356Ter
XM_011519025.1:c.965C>G XP_011517327.1:p.Ser322Ter
XM_011519026.1:c.1067C>G XP_011517328.1:p.Ser356Ter
XM_011519027.1:c.1067C>G XP_011517329.1:p.Ser356Ter
XM_011519028.1:c.1067C>G XP_011517330.1:p.Ser356Ter
XM_011519033.1:c.1046C>G XP_011517335.1:p.Ser349Ter
XM_017015134.1:c.1043C>G XP_016870623.1:p.Ser348Ter
XM_017015136.2:c.1037C>G XP_016870625.1:p.Ser346Ter
XM_017015137.1:c.944C>G XP_016870626.1:p.Ser315Ter
XM_017015138.1:c.944C>G XP_016870627.1:p.Ser315Ter
XM_024447674.1:c.965C>G XP_024303442.1:p.Ser322Ter
XM_024447675.1:c.965C>G XP_024303443.1:p.Ser322Ter
XM_024447676.1:c.182C>G XP_024303444.1:p.Ser61Ter
XM_024447677.1:c.182C>G XP_024303445.1:p.Ser61Ter
XM_024447678.1:c.965C>G XP_024303446.1:p.Ser322Ter
XM_024447679.1:c.965C>G XP_024303447.1:p.Ser322Ter
XM_024447680.1:c.944C>G XP_024303448.1:p.Ser315Ter