Canonical Allele Identifier: CA2223866331
Community Standard Title: NM_001025195.2(CES1):c.428G= (p.Gly143=)
Gene: CES1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55823661C= , CM000678.2:g.55823661C= GRCh38
NC_000016.9:g.55857573C= , CM000678.1:g.55857573C= GRCh37
NC_000016.8:g.54415074C= NCBI36
NG_012057.1:g.14503G=

Transcript Alleles

HGVS Amino-acid Change
NM_001025195.2:c.428G= MANE Select NP_001020366.1:p.Gly143=
ENST00000360526.8:c.428G= MANE Select ENSP00000353720.4:p.Gly143=
NM_001025194.1:c.425G= NP_001020365.1:p.Gly142=
NM_001025194.2:c.425G= NP_001020365.1:p.Gly142=
NM_001025195.1:c.428G= NP_001020366.1:p.Gly143=
NM_001266.4:c.425G= NP_001257.4:p.Gly142=
NM_001266.5:c.425G= NP_001257.4:p.Gly142=
ENST00000360526.7:c.428G= ENSP00000353720.3:p.Gly143=
ENST00000361503.8:c.425G= ENSP00000355193.4:p.Gly142=
ENST00000422046.6:c.425G= ENSP00000390492.2:p.Gly142=
ENST00000563005.5:n.261G=
ENST00000565403.5:n.124G=
ENST00000566555.1:n.455G=
XM_005255774.1:c.428G= XP_005255831.1:p.Gly143=
XM_005255774.2:c.428G= XP_005255831.1:p.Gly143=
XM_011522816.1:c.428G= XP_011521118.1:p.Gly143=