Canonical Allele Identifier: CA2580081567

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1948376
• ClinVar RCV Id: RCV002667689

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459246A>C , CM000672.2:g.49459246A>C	GRCh38
NC_000010.10:g.50667292A>C , CM000672.1:g.50667292A>C	GRCh37
NC_000010.9:g.50337298A>C	NCBI36
NG_009442.1:g.84856T>G , LRG_465:g.84856T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4063-12T>G MANE Select	ENSP00000348089.5:n.4063-12T>G
ENST00000679552.1:n.2260T>G
ENST00000679871.1:n.1209-12T>G
ENST00000679974.1:n.1112-12T>G
ENST00000681632.1:n.5466-12T>G
ENST00000681659.1:c.3904-12T>G	ENSP00000505631.1:n.3904-12T>G
ENST00000355832.9:c.4063-12T>G	ENSP00000348089.5:n.4063-12T>G
ENST00000623073.3:c.*2359-12T>G	ENSP00000485650.1:n.*2359-12T>G
ENST00000623115.3:c.2173-12T>G	ENSP00000485321.1:n.2173-12T>G
ENST00000624341.3:c.1895-12T>G
NM_000124.3:c.4063-12T>G	NP_000115.1:n.4063-12T>G
XR_945953.1:n.243-12319A>C
NM_001346440.1:c.4063-12T>G	NP_001333369.1:n.4063-12T>G
NM_000124.4:c.4063-12T>G MANE Select	NP_000115.1:n.4063-12T>G
NM_001346440.2:c.4063-12T>G	NP_001333369.1:n.4063-12T>G