Canonical Allele Identifier: CA1908749695
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49471046T= , CM000672.2:g.49471046T= GRCh38
NC_000010.10:g.50679092T= , CM000672.1:g.50679092T= GRCh37
NC_000010.9:g.50349098T= NCBI36
NG_009442.1:g.73056A= , LRG_465:g.73056A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2999A= MANE Select ENSP00000348089.5:p.Asp1000=
ENST00000679552.1:n.142-157A=
ENST00000679871.1:n.145A=
ENST00000679974.1:n.120-157A=
ENST00000681632.1:n.4402A=
ENST00000681659.1:c.2840A= ENSP00000505631.1:p.Asp947=
ENST00000355832.9:c.2999A= ENSP00000348089.5:p.Asp1000=
ENST00000623073.3:c.*1295A= ENSP00000485650.1:n.*1295A=
ENST00000623115.3:c.1109A= ENSP00000485321.1:p.Asp370=
ENST00000624341.3:c.831A=
NM_000124.3:c.2999A= NP_000115.1:p.Asp1000=
XR_945953.1:n.243-519T=
NM_001346440.1:c.2999A= NP_001333369.1:p.Asp1000=
NM_000124.4:c.2999A= MANE Select NP_000115.1:p.Asp1000=
NM_001346440.2:c.2999A= NP_001333369.1:p.Asp1000=