Canonical Allele Identifier: CA129817
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 31578
dbSNP Id: rs185142838

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49461473G>A , CM000672.2:g.49461473G>A GRCh38
NC_000010.10:g.50669519G>A , CM000672.1:g.50669519G>A GRCh37
NC_000010.9:g.50339525G>A NCBI36
NG_009442.1:g.82629C>T , LRG_465:g.82629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3862C>T MANE Select ENSP00000348089.5:p.Arg1288Ter
ENST00000679552.1:n.933C>T
ENST00000679871.1:n.1008C>T
ENST00000679974.1:n.911C>T
ENST00000681632.1:n.5265C>T
ENST00000681659.1:c.3703C>T ENSP00000505631.1:p.Arg1235Ter
ENST00000355832.9:c.3862C>T ENSP00000348089.5:p.Arg1288Ter
ENST00000465653.1:n.184C>T
ENST00000623073.3:c.*2158C>T ENSP00000485650.1:n.*2158C>T
ENST00000623115.3:c.1972C>T ENSP00000485321.1:p.Arg658Ter
ENST00000624341.3:c.1694C>T
NM_000124.3:c.3862C>T NP_000115.1:p.Arg1288Ter
XR_945953.1:n.243-10092G>A
NM_001346440.1:c.3862C>T NP_001333369.1:p.Arg1288Ter
NM_000124.4:c.3862C>T MANE Select NP_000115.1:p.Arg1288Ter
NM_001346440.2:c.3862C>T NP_001333369.1:p.Arg1288Ter