Canonical Allele Identifier: CA5374981
Community Standard Title: NM_024757.5(EHMT1):c.2508C>T (p.Asp836=)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137798815C>T , CM000671.2:g.137798815C>T GRCh38
NC_000009.11:g.140693267C>T , CM000671.1:g.140693267C>T GRCh37
NC_000009.10:g.139813088C>T NCBI36
NG_011776.1:g.184824C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2508C>T MANE Select NP_079033.4:p.Asp836=
ENST00000460843.6:c.2508C>T MANE Select ENSP00000417980.1:p.Asp836=
NM_001354263.1:c.2487C>T NP_001341192.1:p.Asp829=
NM_001354263.2:c.2487C>T NP_001341192.1:p.Asp829=
NM_024757.4:c.2508C>T NP_079033.4:p.Asp836=
ENST00000460843.5:c.2508C>T ENSP00000417980.1:p.Asp836=
ENST00000462942.3:c.1365C>T ENSP00000436107.1:p.Asp455=
ENST00000482340.5:c.78C>T ENSP00000486748.1:p.Asp26=
ENST00000486164.5:c.86C>T
ENST00000493484.5:c.78C>T ENSP00000486503.1:p.Asp26=
ENST00000636027.1:c.2394C>T ENSP00000489961.1:p.Asp798=
ENST00000637161.1:c.2415C>T ENSP00000490328.1:p.Asp805=
ENST00000637261.1:c.2548C>T ENSP00000490815.1:n.2548C>T
ENST00000637277.1:n.74C>T
ENST00000637891.1:c.402C>T ENSP00000490907.1:p.Asp134=
ENST00000637949.1:c.186C>T ENSP00000489786.1:p.Asp62=
XM_005266105.3:c.2499C>T XP_005266162.1:p.Asp833=
XM_005266105.5:c.2499C>T XP_005266162.1:p.Asp833=
XM_005266110.1:c.2415C>T XP_005266167.1:p.Asp805=
XM_006717288.2:c.2490C>T XP_006717351.1:p.Asp830=
XM_011519021.1:c.2517C>T XP_011517323.1:p.Asp839=
XM_011519021.3:c.2517C>T XP_011517323.1:p.Asp839=
XM_011519022.1:c.2514C>T XP_011517324.1:p.Asp838=
XM_011519022.3:c.2514C>T XP_011517324.1:p.Asp838=
XM_011519023.1:c.2496C>T XP_011517325.1:p.Asp832=
XM_011519023.3:c.2496C>T XP_011517325.1:p.Asp832=
XM_011519024.1:c.2439C>T XP_011517326.1:p.Asp813=
XM_011519025.1:c.2415C>T XP_011517327.1:p.Asp805=
XM_011519026.1:c.2373C>T XP_011517328.1:p.Asp791=
XM_011519027.1:c.2517C>T XP_011517329.1:p.Asp839=
XM_011519029.1:c.939C>T XP_011517331.1:p.Asp313=
XM_011519029.3:c.939C>T XP_011517331.1:p.Asp313=
XM_011519030.1:c.291C>T XP_011517332.1:p.Asp97=
XM_011519030.3:c.291C>T XP_011517332.1:p.Asp97=
XM_011519031.1:c.78C>T XP_011517333.1:p.Asp26=
XM_011519032.1:c.78C>T XP_011517334.1:p.Asp26=
XM_011519033.1:c.2352C>T XP_011517335.1:p.Asp784=
XM_017015134.1:c.2493C>T XP_016870623.1:p.Asp831=
XM_017015136.2:c.2409C>T XP_016870625.1:p.Asp803=
XM_017015137.1:c.2394C>T XP_016870626.1:p.Asp798=
XM_017015138.1:c.2394C>T XP_016870627.1:p.Asp798=
XM_024447674.1:c.2337C>T XP_024303442.1:p.Asp779=
XM_024447675.1:c.2271C>T XP_024303443.1:p.Asp757=
XM_024447676.1:c.1632C>T XP_024303444.1:p.Asp544=
XM_024447677.1:c.1632C>T XP_024303445.1:p.Asp544=
XM_024447678.1:c.2415C>T XP_024303446.1:p.Asp805=
XM_024447680.1:c.2250C>T XP_024303448.1:p.Asp750=