Canonical Allele Identifier: CA1908749615
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470887T= , CM000672.2:g.49470887T= GRCh38
NC_000010.10:g.50678933T= , CM000672.1:g.50678933T= GRCh37
NC_000010.9:g.50348939T= NCBI36
NG_009442.1:g.73215A= , LRG_465:g.73215A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3073A= MANE Select ENSP00000348089.5:p.Thr1025=
ENST00000679552.1:n.144A=
ENST00000679871.1:n.219A=
ENST00000679974.1:n.122A=
ENST00000681632.1:n.4476A=
ENST00000681659.1:c.2914A= ENSP00000505631.1:p.Thr972=
ENST00000355832.9:c.3073A= ENSP00000348089.5:p.Thr1025=
ENST00000623073.3:c.*1369A= ENSP00000485650.1:n.*1369A=
ENST00000623115.3:c.1183A= ENSP00000485321.1:p.Thr395=
ENST00000624341.3:c.905A=
NM_000124.3:c.3073A= NP_000115.1:p.Thr1025=
XR_945953.1:n.243-678T=
NM_001346440.1:c.3073A= NP_001333369.1:p.Thr1025=
NM_000124.4:c.3073A= MANE Select NP_000115.1:p.Thr1025=
NM_001346440.2:c.3073A= NP_001333369.1:p.Thr1025=