Canonical Allele Identifier: CA376752547

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 2000019
• ClinVar RCV Id: RCV002824219
• MyVariant Identifiers: chr10:g.50732289G>C (hg19) ; chr10:g.49524243G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524243G>C , CM000672.2:g.49524243G>C	GRCh38
NC_000010.10:g.50732289G>C , CM000672.1:g.50732289G>C	GRCh37
NC_000010.9:g.50402295G>C	NCBI36
NG_009442.1:g.19859C>G , LRG_465:g.19859C>G
NG_033155.1:g.5039C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1187C>G (ERCC6) MANE Select	ENSP00000348089.5:p.Ser396Cys
ENST00000447839.7:c.1187C>G (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Ser396Cys
ENST00000679596.1:c.*816C>G (ERCC6)	ENSP00000504862.1:n.*816C>G
ENST00000679811.1:n.1270C>G (ERCC6)
ENST00000680107.1:c.652+4174C>G (ERCC6)	ENSP00000505909.1:n.652+4174C>G
ENST00000680233.1:n.1280C>G (ERCC6)
ENST00000681632.1:n.1265C>G (ERCC6)
ENST00000681659.1:c.1187C>G (ERCC6)	ENSP00000505631.1:p.Ser396Cys
ENST00000355832.9:c.1187C>G (ERCC6)	ENSP00000348089.5:p.Ser396Cys
ENST00000447839.6:c.1187C>G	ENSP00000387966.2:p.Ser396Cys
ENST00000515869.1:c.1187C>G	ENSP00000423550.1:p.Ser396Cys
NM_000124.3:c.1187C>G (ERCC6)	NP_000115.1:p.Ser396Cys
NM_001277058.1:c.1187C>G	NP_001263987.1:p.Ser396Cys
NM_001277059.1:c.1187C>G	NP_001263988.1:p.Ser396Cys
NM_170753.3:c.-218C>G (PGBD3)	NP_736609.2:n.-218C>G
NM_001346440.1:c.1187C>G (ERCC6)	NP_001333369.1:p.Ser396Cys
NM_000124.4:c.1187C>G (ERCC6) MANE Select	NP_000115.1:p.Ser396Cys
NM_001277058.2:c.1187C>G (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Ser396Cys
NM_001277059.2:c.1187C>G (ERCC6)	NP_001263988.1:p.Ser396Cys
NM_001346440.2:c.1187C>G (ERCC6)	NP_001333369.1:p.Ser396Cys