Canonical Allele Identifier: CA359827822
Community Standard Title: NM_000082.4(ERCC8):c.397C>T (p.Gln133Ter)
Gene: ERCC8 HGNC NCBI
ERCC8-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.60918267G>A , CM000667.2:g.60918267G>A GRCh38
NC_000005.9:g.60214094G>A , CM000667.1:g.60214094G>A GRCh37
NC_000005.8:g.60249851G>A NCBI36
NG_009289.1:g.31812C>T , LRG_466:g.31812C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000082.4:c.397C>T (ERCC8) MANE Select NP_000073.1:p.Gln133Ter
ENST00000676185.1:c.397C>T (ERCC8) MANE Select ENSP00000501614.1:p.Gln133Ter
NM_000082.3:c.397C>T , LRG_466t1:c.397C>T (ERCC8) NP_000073.1:p.Gln133Ter
NM_001007233.2:c.223C>T (ERCC8) NP_001007234.1:p.Gln75Ter
NM_001007233.3:c.223C>T (ERCC8) NP_001007234.1:p.Gln75Ter
NM_001007234.2:c.397C>T (ERCC8) NP_001007235.1:p.Gln133Ter
NM_001007234.3:c.397C>T (ERCC8) NP_001007235.1:p.Gln133Ter
NM_001290285.1:c.20C>T (ERCC8) NP_001277214.1:p.Thr7Ile
NM_001290285.2:c.20C>T (ERCC8) NP_001277214.1:p.Thr7Ile
ENST00000265038.10:c.397C>T (ERCC8) ENSP00000265038.6:p.Gln133Ter
ENST00000265038.9:c.397C>T (ERCC8) ENSP00000265038.5:p.Gln133Ter
ENST00000381118.7:c.*441C>T (ERCC8) ENSP00000370510.3:n.*441C>T
ENST00000439176.5:c.223C>T (ERCC8) ENSP00000408344.1:p.Gln75Ter
ENST00000439176.6:c.397C>T (ERCC8) ENSP00000408344.2:p.Gln133Ter
ENST00000477893.1:n.448C>T (ERCC8)
ENST00000484330.5:n.224C>T (ERCC8)
ENST00000495985.5:n.170C>T (ERCC8)
ENST00000497892.5:n.440C>T (ERCC8)
ENST00000497892.6:c.*195C>T (ERCC8) ENSP00000501805.1:n.*195C>T
ENST00000643034.1:c.*289C>T (ERCC8) ENSP00000496080.1:n.*289C>T
ENST00000643708.1:c.397C>T (ERCC8) ENSP00000494199.1:p.Gln133Ter
ENST00000647431.1:c.348C>T (ERCC8)
ENST00000647431.2:c.397C>T (ERCC8) ENSP00000494726.2:p.Gln133Ter
ENST00000647486.1:c.348C>T (ERCC8)
ENST00000647486.2:c.397C>T (ERCC8) ENSP00000494466.2:p.Gln133Ter
ENST00000675042.1:c.223C>T (ERCC8) ENSP00000502082.1:p.Gln75Ter
ENST00000675042.2:c.223C>T (ERCC8) ENSP00000502082.2:p.Gln75Ter
ENST00000675229.1:c.397C>T (ERCC8) ENSP00000502154.1:p.Gln133Ter
ENST00000675378.1:c.397C>T (ERCC8) ENSP00000502535.1:p.Gln133Ter
ENST00000675452.1:n.336C>T (ERCC8)
ENST00000675452.2:c.*362C>T (ERCC8) ENSP00000506954.1:n.*362C>T
ENST00000675920.1:n.1005C>T (ERCC8)
ENST00000682217.1:c.397C>T (ERCC8) ENSP00000507570.1:p.Gln133Ter
ENST00000682246.1:n.453C>T (ERCC8)
ENST00000682375.1:c.223C>T (ERCC8) ENSP00000507551.1:p.Gln75Ter
ENST00000682380.1:n.530C>T (ERCC8)
ENST00000682418.1:n.453C>T (ERCC8)
ENST00000682750.1:n.341C>T (ERCC8)
ENST00000683052.1:c.199C>T (ERCC8) ENSP00000507072.1:p.Gln67Ter
ENST00000683199.1:n.419C>T (ERCC8)
ENST00000683460.1:c.397C>T (ERCC8) ENSP00000507820.1:p.Gln133Ter
ENST00000684394.1:n.452C>T (ERCC8)
ENST00000684453.1:n.447C>T (ERCC8)
ENST00000684621.1:n.453C>T (ERCC8)
XR_948361.1:n.2476-28G>A (ERCC8-AS1)
XR_948362.1:n.2662-28G>A (ERCC8-AS1)