Canonical Allele Identifier: CA5496384
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 706765
dbSNP Id: rs56089364

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49524285T>C , CM000672.2:g.49524285T>C GRCh38
NC_000010.10:g.50732331T>C , CM000672.1:g.50732331T>C GRCh37
NC_000010.9:g.50402337T>C NCBI36
NG_009442.1:g.19817A>G , LRG_465:g.19817A>G
NG_033155.1:g.4997A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1145A>G MANE Select ENSP00000348089.5:p.Glu382Gly
ENST00000447839.7:c.1145A>G MANE Plus Clinical ENSP00000387966.2:p.Glu382Gly
ENST00000679596.1:c.*774A>G ENSP00000504862.1:n.*774A>G
ENST00000679811.1:n.1228A>G
ENST00000680107.1:c.652+4132A>G ENSP00000505909.1:n.652+4132A>G
ENST00000680233.1:n.1238A>G
ENST00000681632.1:n.1223A>G
ENST00000681659.1:c.1145A>G ENSP00000505631.1:p.Glu382Gly
ENST00000355832.9:c.1145A>G ENSP00000348089.5:p.Glu382Gly
ENST00000447839.6:c.1145A>G ENSP00000387966.2:p.Glu382Gly
ENST00000515869.1:c.1145A>G ENSP00000423550.1:p.Glu382Gly
NM_000124.3:c.1145A>G NP_000115.1:p.Glu382Gly
NM_001277058.1:c.1145A>G NP_001263987.1:p.Glu382Gly
NM_001277059.1:c.1145A>G NP_001263988.1:p.Glu382Gly
NM_001346440.1:c.1145A>G NP_001333369.1:p.Glu382Gly
NM_000124.4:c.1145A>G MANE Select NP_000115.1:p.Glu382Gly
NM_001277058.2:c.1145A>G MANE Plus Clinical NP_001263987.1:p.Glu382Gly
NM_001277059.2:c.1145A>G NP_001263988.1:p.Glu382Gly
NM_001346440.2:c.1145A>G NP_001333369.1:p.Glu382Gly