Canonical Allele Identifier: CA375771498
Community Standard Title: NM_024757.5(EHMT1):c.643-1G>A
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137728348G>A , CM000671.2:g.137728348G>A GRCh38
NC_000009.11:g.140622800G>A , CM000671.1:g.140622800G>A GRCh37
NC_000009.10:g.139742621G>A NCBI36
NG_011776.1:g.114357G>A

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.643-1G>A MANE Select NP_079033.4:n.643-1G>A
ENST00000460843.6:c.643-1G>A MANE Select ENSP00000417980.1:n.643-1G>A
NM_001145527.1:c.643-1G>A NP_001138999.1:n.643-1G>A
NM_001145527.2:c.643-1G>A NP_001138999.1:n.643-1G>A
NM_001354259.1:c.550-1G>A NP_001341188.1:n.550-1G>A
NM_001354259.2:c.550-1G>A NP_001341188.1:n.550-1G>A
NM_001354263.1:c.643-1G>A NP_001341192.1:n.643-1G>A
NM_001354263.2:c.643-1G>A NP_001341192.1:n.643-1G>A
NM_001354611.1:c.643-1G>A NP_001341540.1:n.643-1G>A
NM_001354611.2:c.643-1G>A NP_001341540.1:n.643-1G>A
NM_001354612.1:c.550-1G>A NP_001341541.1:n.550-1G>A
NM_001354612.2:c.550-1G>A NP_001341541.1:n.550-1G>A
NM_024757.4:c.643-1G>A NP_079033.4:n.643-1G>A
ENST00000371394.6:c.*378-1G>A ENSP00000485945.1:n.*378-1G>A
ENST00000460486.3:c.754-1G>A ENSP00000486969.1:n.754-1G>A
ENST00000460843.5:c.643-1G>A ENSP00000417980.1:n.643-1G>A
ENST00000462484.5:c.643-1G>A ENSP00000417328.1:n.643-1G>A
ENST00000626066.2:c.567-1G>A
ENST00000629335.2:c.643-1G>A ENSP00000490056.1:n.643-1G>A
ENST00000636027.1:c.550-1G>A ENSP00000489961.1:n.550-1G>A
ENST00000637161.1:c.550-1G>A ENSP00000490328.1:n.550-1G>A
ENST00000637261.1:c.619-1G>A ENSP00000490815.1:n.619-1G>A
ENST00000637977.1:c.588-1G>A
ENST00000638071.1:c.348-1G>A
XM_005266105.3:c.634-1G>A XP_005266162.1:n.634-1G>A
XM_005266105.5:c.634-1G>A XP_005266162.1:n.634-1G>A
XM_005266110.1:c.550-1G>A XP_005266167.1:n.550-1G>A
XM_006717288.2:c.625-1G>A XP_006717351.1:n.625-1G>A
XM_011519021.1:c.652-1G>A XP_011517323.1:n.652-1G>A
XM_011519021.3:c.652-1G>A XP_011517323.1:n.652-1G>A
XM_011519022.1:c.649-1G>A XP_011517324.1:n.649-1G>A
XM_011519022.3:c.649-1G>A XP_011517324.1:n.649-1G>A
XM_011519023.1:c.652-1G>A XP_011517325.1:n.652-1G>A
XM_011519023.3:c.652-1G>A XP_011517325.1:n.652-1G>A
XM_011519024.1:c.652-1G>A XP_011517326.1:n.652-1G>A
XM_011519025.1:c.550-1G>A XP_011517327.1:n.550-1G>A
XM_011519026.1:c.652-1G>A XP_011517328.1:n.652-1G>A
XM_011519027.1:c.652-1G>A XP_011517329.1:n.652-1G>A
XM_011519028.1:c.652-1G>A XP_011517330.1:n.652-1G>A
XM_011519033.1:c.652-1G>A XP_011517335.1:n.652-1G>A
XM_017015134.1:c.649-1G>A XP_016870623.1:n.649-1G>A
XM_017015136.2:c.643-1G>A XP_016870625.1:n.643-1G>A
XM_017015137.1:c.550-1G>A XP_016870626.1:n.550-1G>A
XM_017015138.1:c.550-1G>A XP_016870627.1:n.550-1G>A
XM_024447674.1:c.550-1G>A XP_024303442.1:n.550-1G>A
XM_024447675.1:c.550-1G>A XP_024303443.1:n.550-1G>A
XM_024447678.1:c.550-1G>A XP_024303446.1:n.550-1G>A
XM_024447679.1:c.550-1G>A XP_024303447.1:n.550-1G>A
XM_024447680.1:c.550-1G>A XP_024303448.1:n.550-1G>A