Canonical Allele Identifier: CA376752604

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 1726531
• ClinVar RCV Id: RCV002310215
• MyVariant Identifiers: chr10:g.50732302C>A (hg19) ; chr10:g.49524256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524256C>A , CM000672.2:g.49524256C>A	GRCh38
NC_000010.10:g.50732302C>A , CM000672.1:g.50732302C>A	GRCh37
NC_000010.9:g.50402308C>A	NCBI36
NG_009442.1:g.19846G>T , LRG_465:g.19846G>T
NG_033155.1:g.5026G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1174G>T (ERCC6) MANE Select	ENSP00000348089.5:p.Glu392Ter
ENST00000447839.7:c.1174G>T (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Glu392Ter
ENST00000679596.1:c.*803G>T (ERCC6)	ENSP00000504862.1:n.*803G>T
ENST00000679811.1:n.1257G>T (ERCC6)
ENST00000680107.1:c.652+4161G>T (ERCC6)	ENSP00000505909.1:n.652+4161G>T
ENST00000680233.1:n.1267G>T (ERCC6)
ENST00000681632.1:n.1252G>T (ERCC6)
ENST00000681659.1:c.1174G>T (ERCC6)	ENSP00000505631.1:p.Glu392Ter
ENST00000355832.9:c.1174G>T (ERCC6)	ENSP00000348089.5:p.Glu392Ter
ENST00000447839.6:c.1174G>T	ENSP00000387966.2:p.Glu392Ter
ENST00000515869.1:c.1174G>T	ENSP00000423550.1:p.Glu392Ter
NM_000124.3:c.1174G>T (ERCC6)	NP_000115.1:p.Glu392Ter
NM_001277058.1:c.1174G>T	NP_001263987.1:p.Glu392Ter
NM_001277059.1:c.1174G>T	NP_001263988.1:p.Glu392Ter
NM_170753.3:c.-231G>T (PGBD3)	NP_736609.2:n.-231G>T
NM_001346440.1:c.1174G>T (ERCC6)	NP_001333369.1:p.Glu392Ter
NM_000124.4:c.1174G>T (ERCC6) MANE Select	NP_000115.1:p.Glu392Ter
NM_001277058.2:c.1174G>T (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Glu392Ter
NM_001277059.2:c.1174G>T (ERCC6)	NP_001263988.1:p.Glu392Ter
NM_001346440.2:c.1174G>T (ERCC6)	NP_001333369.1:p.Glu392Ter