Canonical Allele Identifier: CA467877348
Community Standard Title: NM_024757.5(EHMT1):c.2385G>A (p.Ala795=)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137790850G>A , CM000671.2:g.137790850G>A GRCh38
NC_000009.11:g.140685302G>A , CM000671.1:g.140685302G>A GRCh37
NC_000009.10:g.139805123G>A NCBI36
NG_011776.1:g.176859G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2385G>A MANE Select NP_079033.4:p.Ala795=
ENST00000460843.6:c.2385G>A MANE Select ENSP00000417980.1:p.Ala795=
NM_001354259.1:c.2292G>A NP_001341188.1:p.Ala764=
NM_001354259.2:c.2292G>A NP_001341188.1:p.Ala764=
NM_001354263.1:c.2364G>A NP_001341192.1:p.Ala788=
NM_001354263.2:c.2364G>A NP_001341192.1:p.Ala788=
NM_024757.4:c.2385G>A NP_079033.4:p.Ala795=
ENST00000371394.6:c.*2120G>A ENSP00000485945.1:n.*2120G>A
ENST00000460843.5:c.2385G>A ENSP00000417980.1:p.Ala795=
ENST00000462942.3:c.1242G>A ENSP00000436107.1:p.Ala414=
ENST00000482340.5:c.-46G>A ENSP00000486748.1:n.-46G>A
ENST00000493484.5:c.-46G>A ENSP00000486503.1:n.-46G>A
ENST00000636027.1:c.2271G>A ENSP00000489961.1:p.Ala757=
ENST00000637161.1:c.2292G>A ENSP00000490328.1:p.Ala764=
ENST00000637261.1:c.2425G>A ENSP00000490815.1:n.2425G>A
ENST00000637891.1:c.279G>A ENSP00000490907.1:p.Ala93=
ENST00000637949.1:c.63G>A ENSP00000489786.1:p.Ala21=
XM_005266105.3:c.2376G>A XP_005266162.1:p.Ala792=
XM_005266105.5:c.2376G>A XP_005266162.1:p.Ala792=
XM_005266110.1:c.2292G>A XP_005266167.1:p.Ala764=
XM_006717288.2:c.2367G>A XP_006717351.1:p.Ala789=
XM_011519021.1:c.2394G>A XP_011517323.1:p.Ala798=
XM_011519021.3:c.2394G>A XP_011517323.1:p.Ala798=
XM_011519022.1:c.2391G>A XP_011517324.1:p.Ala797=
XM_011519022.3:c.2391G>A XP_011517324.1:p.Ala797=
XM_011519023.1:c.2373G>A XP_011517325.1:p.Ala791=
XM_011519023.3:c.2373G>A XP_011517325.1:p.Ala791=
XM_011519024.1:c.2316G>A XP_011517326.1:p.Ala772=
XM_011519025.1:c.2292G>A XP_011517327.1:p.Ala764=
XM_011519026.1:c.2250G>A XP_011517328.1:p.Ala750=
XM_011519027.1:c.2394G>A XP_011517329.1:p.Ala798=
XM_011519029.1:c.816G>A XP_011517331.1:p.Ala272=
XM_011519029.3:c.816G>A XP_011517331.1:p.Ala272=
XM_011519030.1:c.168G>A XP_011517332.1:p.Ala56=
XM_011519030.3:c.168G>A XP_011517332.1:p.Ala56=
XM_011519031.1:c.-46G>A XP_011517333.1:n.-46G>A
XM_011519032.1:c.-46G>A XP_011517334.1:n.-46G>A
XM_011519033.1:c.2229G>A XP_011517335.1:p.Ala743=
XM_017015134.1:c.2370G>A XP_016870623.1:p.Ala790=
XM_017015136.2:c.2286G>A XP_016870625.1:p.Ala762=
XM_017015137.1:c.2271G>A XP_016870626.1:p.Ala757=
XM_017015138.1:c.2271G>A XP_016870627.1:p.Ala757=
XM_024447674.1:c.2214G>A XP_024303442.1:p.Ala738=
XM_024447675.1:c.2148G>A XP_024303443.1:p.Ala716=
XM_024447676.1:c.1509G>A XP_024303444.1:p.Ala503=
XM_024447677.1:c.1509G>A XP_024303445.1:p.Ala503=
XM_024447678.1:c.2292G>A XP_024303446.1:p.Ala764=
XM_024447680.1:c.2127G>A XP_024303448.1:p.Ala709=