Canonical Allele Identifier: CA5496417
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300091
dbSNP Id: rs766256094

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49524529G>A , CM000672.2:g.49524529G>A GRCh38
NC_000010.10:g.50732575G>A , CM000672.1:g.50732575G>A GRCh37
NC_000010.9:g.50402581G>A NCBI36
NG_009442.1:g.19573C>T , LRG_465:g.19573C>T
NG_033155.1:g.4753C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.901C>T MANE Select ENSP00000348089.5:p.Pro301Ser
ENST00000447839.7:c.901C>T MANE Plus Clinical ENSP00000387966.2:p.Pro301Ser
ENST00000679596.1:c.*530C>T ENSP00000504862.1:n.*530C>T
ENST00000679811.1:n.984C>T
ENST00000680107.1:c.652+3888C>T ENSP00000505909.1:n.652+3888C>T
ENST00000680233.1:n.994C>T
ENST00000681632.1:n.979C>T
ENST00000681659.1:c.901C>T ENSP00000505631.1:p.Pro301Ser
ENST00000355832.9:c.901C>T ENSP00000348089.5:p.Pro301Ser
ENST00000447839.6:c.901C>T ENSP00000387966.2:p.Pro301Ser
ENST00000515869.1:c.901C>T ENSP00000423550.1:p.Pro301Ser
NM_000124.3:c.901C>T NP_000115.1:p.Pro301Ser
NM_001277058.1:c.901C>T NP_001263987.1:p.Pro301Ser
NM_001277059.1:c.901C>T NP_001263988.1:p.Pro301Ser
NM_001346440.1:c.901C>T NP_001333369.1:p.Pro301Ser
NM_000124.4:c.901C>T MANE Select NP_000115.1:p.Pro301Ser
NM_001277058.2:c.901C>T MANE Plus Clinical NP_001263987.1:p.Pro301Ser
NM_001277059.2:c.901C>T NP_001263988.1:p.Pro301Ser
NM_001346440.2:c.901C>T NP_001333369.1:p.Pro301Ser