Canonical Allele Identifier: CA10631775

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 300088
• ClinVar RCV Id: RCV000267854 ; RCV000301875 ; RCV000358992
• dbSNP Id: rs141391984
• MyVariant Identifiers: chr10:g.50732318G>T (hg19) ; chr10:g.49524272G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524272G>T , CM000672.2:g.49524272G>T	GRCh38
NC_000010.10:g.50732318G>T , CM000672.1:g.50732318G>T	GRCh37
NC_000010.9:g.50402324G>T	NCBI36
NG_009442.1:g.19830C>A , LRG_465:g.19830C>A
NG_033155.1:g.5010C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1158C>A (ERCC6) MANE Select	ENSP00000348089.5:p.Asp386Glu
ENST00000447839.7:c.1158C>A (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Asp386Glu
ENST00000679596.1:c.*787C>A (ERCC6)	ENSP00000504862.1:n.*787C>A
ENST00000679811.1:n.1241C>A (ERCC6)
ENST00000680107.1:c.652+4145C>A (ERCC6)	ENSP00000505909.1:n.652+4145C>A
ENST00000680233.1:n.1251C>A (ERCC6)
ENST00000681632.1:n.1236C>A (ERCC6)
ENST00000681659.1:c.1158C>A (ERCC6)	ENSP00000505631.1:p.Asp386Glu
ENST00000355832.9:c.1158C>A (ERCC6)	ENSP00000348089.5:p.Asp386Glu
ENST00000447839.6:c.1158C>A	ENSP00000387966.2:p.Asp386Glu
ENST00000515869.1:c.1158C>A	ENSP00000423550.1:p.Asp386Glu
NM_000124.3:c.1158C>A (ERCC6)	NP_000115.1:p.Asp386Glu
NM_001277058.1:c.1158C>A	NP_001263987.1:p.Asp386Glu
NM_001277059.1:c.1158C>A	NP_001263988.1:p.Asp386Glu
NM_170753.3:c.-247C>A (PGBD3)	NP_736609.2:n.-247C>A
NM_001346440.1:c.1158C>A (ERCC6)	NP_001333369.1:p.Asp386Glu
NM_000124.4:c.1158C>A (ERCC6) MANE Select	NP_000115.1:p.Asp386Glu
NM_001277058.2:c.1158C>A (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Asp386Glu
NM_001277059.2:c.1158C>A (ERCC6)	NP_001263988.1:p.Asp386Glu
NM_001346440.2:c.1158C>A (ERCC6)	NP_001333369.1:p.Asp386Glu