Canonical Allele Identifier: CA201814125
Community Standard Title: NM_024757.5(EHMT1):c.3599A>G (p.Asn1200Ser)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137834407A>G , CM000671.2:g.137834407A>G GRCh38
NC_000009.11:g.140728859A>G , CM000671.1:g.140728859A>G GRCh37
NC_000009.10:g.139848680A>G NCBI36
NG_011776.1:g.220416A>G

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3599A>G MANE Select NP_079033.4:p.Asn1200Ser
ENST00000460843.6:c.3599A>G MANE Select ENSP00000417980.1:p.Asn1200Ser
NM_001354263.1:c.3578A>G NP_001341192.1:p.Asn1193Ser
NM_001354263.2:c.3578A>G NP_001341192.1:p.Asn1193Ser
NM_024757.4:c.3599A>G NP_079033.4:p.Asn1200Ser
ENST00000460843.5:c.3599A>G ENSP00000417980.1:p.Asn1200Ser
ENST00000462942.3:c.2398-12153A>G ENSP00000436107.1:n.2398-12153A>G
ENST00000472849.1:n.371A>G
ENST00000475564.5:n.1323A>G
ENST00000475704.2:n.329A>G
ENST00000494249.5:n.952A>G
ENST00000637161.1:c.3506A>G ENSP00000490328.1:p.Asn1169Ser
ENST00000637261.1:c.4173A>G ENSP00000490815.1:n.4173A>G
ENST00000637748.1:n.580A>G
ENST00000637891.1:c.1673A>G ENSP00000490907.1:n.1673A>G
XM_005266105.3:c.3590A>G XP_005266162.1:p.Asn1197Ser
XM_005266105.5:c.3590A>G XP_005266162.1:p.Asn1197Ser
XM_005266110.1:c.3506A>G XP_005266167.1:p.Asn1169Ser
XM_006717288.2:c.3581A>G XP_006717351.1:p.Asn1194Ser
XM_011519021.1:c.3608A>G XP_011517323.1:p.Asn1203Ser
XM_011519021.3:c.3608A>G XP_011517323.1:p.Asn1203Ser
XM_011519022.1:c.3605A>G XP_011517324.1:p.Asn1202Ser
XM_011519022.3:c.3605A>G XP_011517324.1:p.Asn1202Ser
XM_011519023.1:c.3587A>G XP_011517325.1:p.Asn1196Ser
XM_011519023.3:c.3587A>G XP_011517325.1:p.Asn1196Ser
XM_011519024.1:c.3530A>G XP_011517326.1:p.Asn1177Ser
XM_011519025.1:c.3506A>G XP_011517327.1:p.Asn1169Ser
XM_011519026.1:c.3464A>G XP_011517328.1:p.Asn1155Ser
XM_011519029.1:c.2030A>G XP_011517331.1:p.Asn677Ser
XM_011519029.3:c.2030A>G XP_011517331.1:p.Asn677Ser
XM_011519030.1:c.1382A>G XP_011517332.1:p.Asn461Ser
XM_011519030.3:c.1382A>G XP_011517332.1:p.Asn461Ser
XM_011519031.1:c.1169A>G XP_011517333.1:p.Asn390Ser
XM_011519032.1:c.1169A>G XP_011517334.1:p.Asn390Ser
XM_011519033.1:c.3443A>G XP_011517335.1:p.Asn1148Ser
XM_017015134.1:c.3584A>G XP_016870623.1:p.Asn1195Ser
XM_017015136.2:c.3500A>G XP_016870625.1:p.Asn1167Ser
XM_017015137.1:c.3485A>G XP_016870626.1:p.Asn1162Ser
XM_017015138.1:c.3485A>G XP_016870627.1:p.Asn1162Ser
XM_024447674.1:c.3428A>G XP_024303442.1:p.Asn1143Ser
XM_024447675.1:c.3362A>G XP_024303443.1:p.Asn1121Ser
XM_024447676.1:c.2723A>G XP_024303444.1:p.Asn908Ser
XM_024447677.1:c.2723A>G XP_024303445.1:p.Asn908Ser
XM_024447680.1:c.3341A>G XP_024303448.1:p.Asn1114Ser