Canonical Allele Identifier: CA1908749551
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470759T= , CM000672.2:g.49470759T= GRCh38
NC_000010.10:g.50678805T= , CM000672.1:g.50678805T= GRCh37
NC_000010.9:g.50348811T= NCBI36
NG_009442.1:g.73343A= , LRG_465:g.73343A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3201A= MANE Select ENSP00000348089.5:p.Thr1067=
ENST00000679552.1:n.272A=
ENST00000679871.1:n.347A=
ENST00000679974.1:n.250A=
ENST00000681632.1:n.4604A=
ENST00000681659.1:c.3042A= ENSP00000505631.1:p.Thr1014=
ENST00000355832.9:c.3201A= ENSP00000348089.5:p.Thr1067=
ENST00000623073.3:c.*1497A= ENSP00000485650.1:n.*1497A=
ENST00000623115.3:c.1311A= ENSP00000485321.1:p.Thr437=
ENST00000624341.3:c.1033A=
NM_000124.3:c.3201A= NP_000115.1:p.Thr1067=
XR_945953.1:n.243-806T=
NM_001346440.1:c.3201A= NP_001333369.1:p.Thr1067=
NM_000124.4:c.3201A= MANE Select NP_000115.1:p.Thr1067=
NM_001346440.2:c.3201A= NP_001333369.1:p.Thr1067=