Canonical Allele Identifier: CA376752354

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 2814817
• ClinVar RCV Id: RCV003683113
• MyVariant Identifiers: chr10:g.50732236G>A (hg19) ; chr10:g.49524190G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524190G>A , CM000672.2:g.49524190G>A	GRCh38
NC_000010.10:g.50732236G>A , CM000672.1:g.50732236G>A	GRCh37
NC_000010.9:g.50402242G>A	NCBI36
NG_009442.1:g.19912C>T , LRG_465:g.19912C>T
NG_033155.1:g.5092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1240C>T (ERCC6) MANE Select	ENSP00000348089.5:p.Gln414Ter
ENST00000447839.7:c.1240C>T (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Gln414Ter
ENST00000679596.1:c.*869C>T (ERCC6)	ENSP00000504862.1:n.*869C>T
ENST00000679811.1:n.1323C>T (ERCC6)
ENST00000680107.1:c.652+4227C>T (ERCC6)	ENSP00000505909.1:n.652+4227C>T
ENST00000680233.1:n.1333C>T (ERCC6)
ENST00000681632.1:n.1318C>T (ERCC6)
ENST00000681659.1:c.1240C>T (ERCC6)	ENSP00000505631.1:p.Gln414Ter
ENST00000355832.9:c.1240C>T (ERCC6)	ENSP00000348089.5:p.Gln414Ter
ENST00000374127.3:c.-165C>T	ENSP00000363242.3:n.-165C>T
ENST00000447839.6:c.1240C>T	ENSP00000387966.2:p.Gln414Ter
ENST00000515869.1:c.1240C>T	ENSP00000423550.1:p.Gln414Ter
NM_000124.3:c.1240C>T (ERCC6)	NP_000115.1:p.Gln414Ter
NM_001277058.1:c.1240C>T	NP_001263987.1:p.Gln414Ter
NM_001277059.1:c.1240C>T	NP_001263988.1:p.Gln414Ter
NM_170753.3:c.-165C>T (PGBD3)	NP_736609.2:n.-165C>T
NM_001346440.1:c.1240C>T (ERCC6)	NP_001333369.1:p.Gln414Ter
NM_000124.4:c.1240C>T (ERCC6) MANE Select	NP_000115.1:p.Gln414Ter
NM_001277058.2:c.1240C>T (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Gln414Ter
NM_001277059.2:c.1240C>T (ERCC6)	NP_001263988.1:p.Gln414Ter
NM_001346440.2:c.1240C>T (ERCC6)	NP_001333369.1:p.Gln414Ter