Canonical Allele Identifier: CA376740894

Gene: ERCC6 PGBD3

Linked Data

• dbSNP Id: rs1836955974
• MyVariant Identifiers: chr10:g.50724237G>C (hg19) ; chr10:g.49516191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49516191G>C , CM000672.2:g.49516191G>C	GRCh38
NC_000010.10:g.50724237G>C , CM000672.1:g.50724237G>C	GRCh37
NC_000010.9:g.50394243G>C	NCBI36
NG_009442.1:g.27911C>G , LRG_465:g.27911C>G
NG_033155.1:g.13091C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1397+7842C>G (ERCC6) MANE Select	ENSP00000348089.5:n.1397+7842C>G
ENST00000447839.7:c.2328C>G (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Cys776Trp
ENST00000679596.1:c.*1957C>G (ERCC6)	ENSP00000504862.1:n.*1957C>G
ENST00000679811.1:n.1480+7842C>G (ERCC6)
ENST00000680107.1:c.*908C>G (ERCC6)	ENSP00000505909.1:n.*908C>G
ENST00000681632.1:n.1475+7842C>G (ERCC6)
ENST00000681659.1:c.1397+7842C>G (ERCC6)	ENSP00000505631.1:n.1397+7842C>G
ENST00000355832.9:c.1397+7842C>G (ERCC6)	ENSP00000348089.5:n.1397+7842C>G
ENST00000374127.3:c.924C>G	ENSP00000363242.3:p.Cys308Trp
ENST00000447839.6:c.2328C>G	ENSP00000387966.2:p.Cys776Trp
ENST00000515869.1:c.2328C>G	ENSP00000423550.1:p.Cys776Trp
NM_000124.3:c.1397+7842C>G (ERCC6)	NP_000115.1:n.1397+7842C>G
NM_001277058.1:c.2328C>G	NP_001263987.1:p.Cys776Trp
NM_001277059.1:c.2328C>G	NP_001263988.1:p.Cys776Trp
NM_170753.3:c.924C>G (PGBD3)	NP_736609.2:p.Cys308Trp
NM_001346440.1:c.1397+7842C>G (ERCC6)	NP_001333369.1:n.1397+7842C>G
NM_000124.4:c.1397+7842C>G (ERCC6) MANE Select	NP_000115.1:n.1397+7842C>G
NM_001277058.2:c.2328C>G (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Cys776Trp
NM_001277059.2:c.2328C>G (ERCC6)	NP_001263988.1:p.Cys776Trp
NM_001346440.2:c.1397+7842C>G (ERCC6)	NP_001333369.1:n.1397+7842C>G