Canonical Allele Identifier: CA1908749620
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470898A= , CM000672.2:g.49470898A= GRCh38
NC_000010.10:g.50678944A= , CM000672.1:g.50678944A= GRCh37
NC_000010.9:g.50348950A= NCBI36
NG_009442.1:g.73204T= , LRG_465:g.73204T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3071-9T= MANE Select ENSP00000348089.5:n.3071-9T=
ENST00000679552.1:n.142-9T=
ENST00000679871.1:n.217-9T=
ENST00000679974.1:n.120-9T=
ENST00000681632.1:n.4474-9T=
ENST00000681659.1:c.2912-9T= ENSP00000505631.1:n.2912-9T=
ENST00000355832.9:c.3071-9T= ENSP00000348089.5:n.3071-9T=
ENST00000623073.3:c.*1367-9T= ENSP00000485650.1:n.*1367-9T=
ENST00000623115.3:c.1181-9T= ENSP00000485321.1:n.1181-9T=
ENST00000624341.3:c.903-9T=
NM_000124.3:c.3071-9T= NP_000115.1:n.3071-9T=
XR_945953.1:n.243-667A=
NM_001346440.1:c.3071-9T= NP_001333369.1:n.3071-9T=
NM_000124.4:c.3071-9T= MANE Select NP_000115.1:n.3071-9T=
NM_001346440.2:c.3071-9T= NP_001333369.1:n.3071-9T=