Canonical Allele Identifier: CA376752410

Gene: ERCC6 PGBD3

Linked Data

• gnomAD v4: 10-49524208-G-C
• MyVariant Identifiers: chr10:g.50732254G>C (hg19) ; chr10:g.49524208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524208G>C , CM000672.2:g.49524208G>C	GRCh38
NC_000010.10:g.50732254G>C , CM000672.1:g.50732254G>C	GRCh37
NC_000010.9:g.50402260G>C	NCBI36
NG_009442.1:g.19894C>G , LRG_465:g.19894C>G
NG_033155.1:g.5074C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1222C>G (ERCC6) MANE Select	ENSP00000348089.5:p.Pro408Ala
ENST00000447839.7:c.1222C>G (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Pro408Ala
ENST00000679596.1:c.*851C>G (ERCC6)	ENSP00000504862.1:n.*851C>G
ENST00000679811.1:n.1305C>G (ERCC6)
ENST00000680107.1:c.652+4209C>G (ERCC6)	ENSP00000505909.1:n.652+4209C>G
ENST00000680233.1:n.1315C>G (ERCC6)
ENST00000681632.1:n.1300C>G (ERCC6)
ENST00000681659.1:c.1222C>G (ERCC6)	ENSP00000505631.1:p.Pro408Ala
ENST00000355832.9:c.1222C>G (ERCC6)	ENSP00000348089.5:p.Pro408Ala
ENST00000374127.3:c.-183C>G	ENSP00000363242.3:n.-183C>G
ENST00000447839.6:c.1222C>G	ENSP00000387966.2:p.Pro408Ala
ENST00000515869.1:c.1222C>G	ENSP00000423550.1:p.Pro408Ala
NM_000124.3:c.1222C>G (ERCC6)	NP_000115.1:p.Pro408Ala
NM_001277058.1:c.1222C>G	NP_001263987.1:p.Pro408Ala
NM_001277059.1:c.1222C>G	NP_001263988.1:p.Pro408Ala
NM_170753.3:c.-183C>G (PGBD3)	NP_736609.2:n.-183C>G
NM_001346440.1:c.1222C>G (ERCC6)	NP_001333369.1:p.Pro408Ala
NM_000124.4:c.1222C>G (ERCC6) MANE Select	NP_000115.1:p.Pro408Ala
NM_001277058.2:c.1222C>G (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Pro408Ala
NM_001277059.2:c.1222C>G (ERCC6)	NP_001263988.1:p.Pro408Ala
NM_001346440.2:c.1222C>G (ERCC6)	NP_001333369.1:p.Pro408Ala