Canonical Allele Identifier: CA376754259

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2012565
• ClinVar RCV Id: RCV002843211
• MyVariant Identifiers: chr10:g.50732608A>C (hg19) ; chr10:g.49524562A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524562A>C , CM000672.2:g.49524562A>C	GRCh38
NC_000010.10:g.50732608A>C , CM000672.1:g.50732608A>C	GRCh37
NC_000010.9:g.50402614A>C	NCBI36
NG_009442.1:g.19540T>G , LRG_465:g.19540T>G
NG_033155.1:g.4720T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.868T>G MANE Select	ENSP00000348089.5:p.Cys290Gly
ENST00000447839.7:c.868T>G MANE Plus Clinical	ENSP00000387966.2:p.Cys290Gly
ENST00000679596.1:c.*497T>G	ENSP00000504862.1:n.*497T>G
ENST00000679811.1:n.951T>G
ENST00000680107.1:c.652+3855T>G	ENSP00000505909.1:n.652+3855T>G
ENST00000680233.1:n.961T>G
ENST00000681632.1:n.946T>G
ENST00000681659.1:c.868T>G	ENSP00000505631.1:p.Cys290Gly
ENST00000355832.9:c.868T>G	ENSP00000348089.5:p.Cys290Gly
ENST00000447839.6:c.868T>G	ENSP00000387966.2:p.Cys290Gly
ENST00000515869.1:c.868T>G	ENSP00000423550.1:p.Cys290Gly
NM_000124.3:c.868T>G	NP_000115.1:p.Cys290Gly
NM_001277058.1:c.868T>G	NP_001263987.1:p.Cys290Gly
NM_001277059.1:c.868T>G	NP_001263988.1:p.Cys290Gly
NM_001346440.1:c.868T>G	NP_001333369.1:p.Cys290Gly
NM_000124.4:c.868T>G MANE Select	NP_000115.1:p.Cys290Gly
NM_001277058.2:c.868T>G MANE Plus Clinical	NP_001263987.1:p.Cys290Gly
NM_001277059.2:c.868T>G	NP_001263988.1:p.Cys290Gly
NM_001346440.2:c.868T>G	NP_001333369.1:p.Cys290Gly