Canonical Allele Identifier: CA469790653

Gene: ERCC6 PGBD3

Linked Data

• ClinVar Variation Id: 753304
• ClinVar RCV Id: RCV000930529
• dbSNP Id: rs1590474112
• MyVariant Identifiers: chr10:g.50732204A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524158A>G , CM000672.2:g.49524158A>G	GRCh38
NC_000010.10:g.50732204A>G , CM000672.1:g.50732204A>G	GRCh37
NC_000010.9:g.50402210A>G	NCBI36
NG_009442.1:g.19944T>C , LRG_465:g.19944T>C
NG_033155.1:g.5124T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1272T>C (ERCC6) MANE Select	ENSP00000348089.5:p.Asp424=
ENST00000447839.7:c.1272T>C (ERCC6) MANE Plus Clinical	ENSP00000387966.2:p.Asp424=
ENST00000679596.1:c.*901T>C (ERCC6)	ENSP00000504862.1:n.*901T>C
ENST00000679811.1:n.1355T>C (ERCC6)
ENST00000680107.1:c.652+4259T>C (ERCC6)	ENSP00000505909.1:n.652+4259T>C
ENST00000680233.1:n.1365T>C (ERCC6)
ENST00000681632.1:n.1350T>C (ERCC6)
ENST00000681659.1:c.1272T>C (ERCC6)	ENSP00000505631.1:p.Asp424=
ENST00000355832.9:c.1272T>C (ERCC6)	ENSP00000348089.5:p.Asp424=
ENST00000374127.3:c.-133T>C	ENSP00000363242.3:n.-133T>C
ENST00000447839.6:c.1272T>C	ENSP00000387966.2:p.Asp424=
ENST00000515869.1:c.1272T>C	ENSP00000423550.1:p.Asp424=
NM_000124.3:c.1272T>C (ERCC6)	NP_000115.1:p.Asp424=
NM_001277058.1:c.1272T>C	NP_001263987.1:p.Asp424=
NM_001277059.1:c.1272T>C	NP_001263988.1:p.Asp424=
NM_170753.3:c.-133T>C (PGBD3)	NP_736609.2:n.-133T>C
NM_001346440.1:c.1272T>C (ERCC6)	NP_001333369.1:p.Asp424=
NM_000124.4:c.1272T>C (ERCC6) MANE Select	NP_000115.1:p.Asp424=
NM_001277058.2:c.1272T>C (ERCC6) MANE Plus Clinical	NP_001263987.1:p.Asp424=
NM_001277059.2:c.1272T>C (ERCC6)	NP_001263988.1:p.Asp424=
NM_001346440.2:c.1272T>C (ERCC6)	NP_001333369.1:p.Asp424=