Canonical Allele Identifier: CA5495262
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2141044
ClinVar RCV Id: RCV003060265
dbSNP Id: rs115319252

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49461551C>T , CM000672.2:g.49461551C>T GRCh38
NC_000010.10:g.50669597C>T , CM000672.1:g.50669597C>T GRCh37
NC_000010.9:g.50339603C>T NCBI36
NG_009442.1:g.82551G>A , LRG_465:g.82551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3784G>A MANE Select ENSP00000348089.5:p.Val1262Met
ENST00000679552.1:n.855G>A
ENST00000679871.1:n.930G>A
ENST00000679974.1:n.833G>A
ENST00000681632.1:n.5187G>A
ENST00000681659.1:c.3625G>A ENSP00000505631.1:p.Val1209Met
ENST00000355832.9:c.3784G>A ENSP00000348089.5:p.Val1262Met
ENST00000465653.1:n.106G>A
ENST00000623073.3:c.*2080G>A ENSP00000485650.1:n.*2080G>A
ENST00000623115.3:c.1894G>A ENSP00000485321.1:p.Val632Met
ENST00000624341.3:c.1616G>A
NM_000124.3:c.3784G>A NP_000115.1:p.Val1262Met
XR_945953.1:n.243-10014C>T
NM_001346440.1:c.3784G>A NP_001333369.1:p.Val1262Met
NM_000124.4:c.3784G>A MANE Select NP_000115.1:p.Val1262Met
NM_001346440.2:c.3784G>A NP_001333369.1:p.Val1262Met