Canonical Allele Identifier: CA666054187
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs1324774329

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49530614T>G , CM000672.2:g.49530614T>G GRCh38
NC_000010.10:g.50738660T>G , CM000672.1:g.50738660T>G GRCh37
NC_000010.9:g.50408666T>G NCBI36
NG_009442.1:g.13488A>C , LRG_465:g.13488A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.543+106A>C MANE Select ENSP00000348089.5:n.543+106A>C
ENST00000447839.7:c.543+106A>C MANE Plus Clinical ENSP00000387966.2:n.543+106A>C
ENST00000679596.1:c.*172+1929A>C ENSP00000504862.1:n.*172+1929A>C
ENST00000679811.1:n.626+106A>C
ENST00000680107.1:c.543+106A>C ENSP00000505909.1:n.543+106A>C
ENST00000680233.1:n.636+106A>C
ENST00000681632.1:n.621+106A>C
ENST00000681659.1:c.543+106A>C ENSP00000505631.1:n.543+106A>C
ENST00000355832.9:c.543+106A>C ENSP00000348089.5:n.543+106A>C
ENST00000447839.6:c.543+106A>C ENSP00000387966.2:n.543+106A>C
ENST00000479652.1:n.18+106A>C
ENST00000515869.1:c.543+106A>C ENSP00000423550.1:n.543+106A>C
NM_000124.3:c.543+106A>C NP_000115.1:n.543+106A>C
NM_001277058.1:c.543+106A>C NP_001263987.1:n.543+106A>C
NM_001277059.1:c.543+106A>C NP_001263988.1:n.543+106A>C
NM_001346440.1:c.543+106A>C NP_001333369.1:n.543+106A>C
NM_000124.4:c.543+106A>C MANE Select NP_000115.1:n.543+106A>C
NM_001277058.2:c.543+106A>C MANE Plus Clinical NP_001263987.1:n.543+106A>C
NM_001277059.2:c.543+106A>C NP_001263988.1:n.543+106A>C
NM_001346440.2:c.543+106A>C NP_001333369.1:n.543+106A>C