Canonical Allele Identifier: CA1908763713
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49524364C= , CM000672.2:g.49524364C= GRCh38
NC_000010.10:g.50732410C= , CM000672.1:g.50732410C= GRCh37
NC_000010.9:g.50402416C= NCBI36
NG_009442.1:g.19738G= , LRG_465:g.19738G=
NG_033155.1:g.4918G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1066G= MANE Select ENSP00000348089.5:p.Glu356=
ENST00000447839.7:c.1066G= MANE Plus Clinical ENSP00000387966.2:p.Glu356=
ENST00000679596.1:c.*695G= ENSP00000504862.1:n.*695G=
ENST00000679811.1:n.1149G=
ENST00000680107.1:c.652+4053G= ENSP00000505909.1:n.652+4053G=
ENST00000680233.1:n.1159G=
ENST00000681632.1:n.1144G=
ENST00000681659.1:c.1066G= ENSP00000505631.1:p.Glu356=
ENST00000355832.9:c.1066G= ENSP00000348089.5:p.Glu356=
ENST00000447839.6:c.1066G= ENSP00000387966.2:p.Glu356=
ENST00000515869.1:c.1066G= ENSP00000423550.1:p.Glu356=
NM_000124.3:c.1066G= NP_000115.1:p.Glu356=
NM_001277058.1:c.1066G= NP_001263987.1:p.Glu356=
NM_001277059.1:c.1066G= NP_001263988.1:p.Glu356=
NM_001346440.1:c.1066G= NP_001333369.1:p.Glu356=
NM_000124.4:c.1066G= MANE Select NP_000115.1:p.Glu356=
NM_001277058.2:c.1066G= MANE Plus Clinical NP_001263987.1:p.Glu356=
NM_001277059.2:c.1066G= NP_001263988.1:p.Glu356=
NM_001346440.2:c.1066G= NP_001333369.1:p.Glu356=