Canonical Allele Identifier: CA2573144344
Community Standard Title: NM_024757.5(EHMT1):c.2713-3C>G
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137811458C>G , CM000671.2:g.137811458C>G GRCh38
NC_000009.11:g.140705910C>G , CM000671.1:g.140705910C>G GRCh37
NC_000009.10:g.139825731C>G NCBI36
NG_011776.1:g.197467C>G

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.2713-3C>G MANE Select NP_079033.4:n.2713-3C>G
ENST00000460843.6:c.2713-3C>G MANE Select ENSP00000417980.1:n.2713-3C>G
NM_001354263.1:c.2692-3C>G NP_001341192.1:n.2692-3C>G
NM_001354263.2:c.2692-3C>G NP_001341192.1:n.2692-3C>G
NM_024757.4:c.2713-3C>G NP_079033.4:n.2713-3C>G
ENST00000460843.5:c.2713-3C>G ENSP00000417980.1:n.2713-3C>G
ENST00000462942.3:c.1570-3C>G ENSP00000436107.1:n.1570-3C>G
ENST00000486164.5:c.400-3C>G
ENST00000488242.2:n.239-3C>G
ENST00000636027.1:c.2599-3C>G ENSP00000489961.1:n.2599-3C>G
ENST00000637161.1:c.2620-3C>G ENSP00000490328.1:n.2620-3C>G
ENST00000637261.1:c.2753-3C>G ENSP00000490815.1:n.2753-3C>G
ENST00000637891.1:c.607-3C>G ENSP00000490907.1:n.607-3C>G
ENST00000637949.1:c.545-3C>G ENSP00000489786.1:n.545-3C>G
XM_005266105.3:c.2704-3C>G XP_005266162.1:n.2704-3C>G
XM_005266105.5:c.2704-3C>G XP_005266162.1:n.2704-3C>G
XM_005266110.1:c.2620-3C>G XP_005266167.1:n.2620-3C>G
XM_006717288.2:c.2695-3C>G XP_006717351.1:n.2695-3C>G
XM_011519021.1:c.2722-3C>G XP_011517323.1:n.2722-3C>G
XM_011519021.3:c.2722-3C>G XP_011517323.1:n.2722-3C>G
XM_011519022.1:c.2719-3C>G XP_011517324.1:n.2719-3C>G
XM_011519022.3:c.2719-3C>G XP_011517324.1:n.2719-3C>G
XM_011519023.1:c.2701-3C>G XP_011517325.1:n.2701-3C>G
XM_011519023.3:c.2701-3C>G XP_011517325.1:n.2701-3C>G
XM_011519024.1:c.2644-3C>G XP_011517326.1:n.2644-3C>G
XM_011519025.1:c.2620-3C>G XP_011517327.1:n.2620-3C>G
XM_011519026.1:c.2578-3C>G XP_011517328.1:n.2578-3C>G
XM_011519029.1:c.1144-3C>G XP_011517331.1:n.1144-3C>G
XM_011519029.3:c.1144-3C>G XP_011517331.1:n.1144-3C>G
XM_011519030.1:c.496-3C>G XP_011517332.1:n.496-3C>G
XM_011519030.3:c.496-3C>G XP_011517332.1:n.496-3C>G
XM_011519031.1:c.283-3C>G XP_011517333.1:n.283-3C>G
XM_011519032.1:c.283-3C>G XP_011517334.1:n.283-3C>G
XM_011519033.1:c.2557-3C>G XP_011517335.1:n.2557-3C>G
XM_017015134.1:c.2698-3C>G XP_016870623.1:n.2698-3C>G
XM_017015136.2:c.2614-3C>G XP_016870625.1:n.2614-3C>G
XM_017015137.1:c.2599-3C>G XP_016870626.1:n.2599-3C>G
XM_017015138.1:c.2599-3C>G XP_016870627.1:n.2599-3C>G
XM_024447674.1:c.2542-3C>G XP_024303442.1:n.2542-3C>G
XM_024447675.1:c.2476-3C>G XP_024303443.1:n.2476-3C>G
XM_024447676.1:c.1837-3C>G XP_024303444.1:n.1837-3C>G
XM_024447677.1:c.1837-3C>G XP_024303445.1:n.1837-3C>G
XM_024447680.1:c.2455-3C>G XP_024303448.1:n.2455-3C>G