Canonical Allele Identifier: CA3218935628
Community Standard Title: NM_005236.3(ERCC4):c.2019T= (p.Gly673=)
Gene: ERCC4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.13947615T= , CM000678.2:g.13947615T= GRCh38
NC_000016.9:g.14041472T= , CM000678.1:g.14041472T= GRCh37
NC_000016.8:g.13948973T= NCBI36
NG_011442.1:g.32459T= , LRG_463:g.32459T=

Transcript Alleles

HGVS Amino-acid Change
NM_005236.3:c.2019T= MANE Select NP_005227.1:p.Gly673=
ENST00000311895.8:c.2019T= MANE Select ENSP00000310520.7:p.Gly673=
NM_005236.2:c.2019T= , LRG_463t1:c.2019T= NP_005227.1:p.Gly673=
ENST00000311895.7:c.2019T= ENSP00000310520.7:p.Gly673=
ENST00000389138.7:n.1296T=
ENST00000462862.1:c.332T= ENSP00000461322.1:n.332T=
ENST00000682617.1:c.2157T= ENSP00000507912.1:p.Gly719=
ENST00000683962.1:c.*1713T= ENSP00000506854.1:n.*1713T=
XM_011522424.1:c.2157T= XP_011520726.1:p.Gly719=
XM_011522424.3:c.2157T= XP_011520726.1:p.Gly719=
XM_011522425.1:c.1476T= XP_011520727.1:p.Gly492=
XM_011522426.1:c.1230T= XP_011520728.1:p.Gly410=
XM_011522427.1:c.669T= XP_011520729.1:p.Gly223=
XM_017023043.2:c.1230T= XP_016878532.1:p.Gly410=
XR_932805.1:n.2178T=