Canonical Allele Identifier: CA469790528

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 2117843
• ClinVar RCV Id: RCV003030180
• gnomAD v4: 10-49524251-C-G
• MyVariant Identifiers: chr10:g.50732297C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524251C>G , CM000672.2:g.49524251C>G	GRCh38
NC_000010.10:g.50732297C>G , CM000672.1:g.50732297C>G	GRCh37
NC_000010.9:g.50402303C>G	NCBI36
NG_009442.1:g.19851G>C , LRG_465:g.19851G>C
NG_033155.1:g.5031G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1179G>C (ERCC6) MANE Select	ENSP00000348089.5:p.Ala393=
ENST00000447839.7:c.1179G>C (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Ala393=
ENST00000679596.1:c.*808G>C (ERCC6)	ENSP00000504862.1:n.*808G>C
ENST00000679811.1:n.1262G>C (ERCC6)
ENST00000680107.1:c.652+4166G>C (ERCC6)	ENSP00000505909.1:n.652+4166G>C
ENST00000680233.1:n.1272G>C (ERCC6)
ENST00000681632.1:n.1257G>C (ERCC6)
ENST00000681659.1:c.1179G>C (ERCC6)	ENSP00000505631.1:p.Ala393=
ENST00000355832.9:c.1179G>C (ERCC6)	ENSP00000348089.5:p.Ala393=
ENST00000447839.6:c.1179G>C	ENSP00000387966.2:p.Ala393=
ENST00000515869.1:c.1179G>C	ENSP00000423550.1:p.Ala393=
NM_000124.3:c.1179G>C (ERCC6)	NP_000115.1:p.Ala393=
NM_001277058.1:c.1179G>C	NP_001263987.1:p.Ala393=
NM_001277059.1:c.1179G>C	NP_001263988.1:p.Ala393=
NM_170753.3:c.-226G>C (PGBD3)	NP_736609.2:n.-226G>C
NM_001346440.1:c.1179G>C (ERCC6)	NP_001333369.1:p.Ala393=
NM_000124.4:c.1179G>C (ERCC6) MANE Select	NP_000115.1:p.Ala393=
NM_001277058.2:c.1179G>C (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Ala393=
NM_001277059.2:c.1179G>C (ERCC6)	NP_001263988.1:p.Ala393=
NM_001346440.2:c.1179G>C (ERCC6)	NP_001333369.1:p.Ala393=