Canonical Allele Identifier: CA376755604

Gene: ERCC6

Linked Data

• dbSNP Id: rs1837271315
• gnomAD v4: 10-49524761-A-C
• MyVariant Identifiers: chr10:g.50732807A>C (hg19) ; chr10:g.49524761A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524761A>C , CM000672.2:g.49524761A>C	GRCh38
NC_000010.10:g.50732807A>C , CM000672.1:g.50732807A>C	GRCh37
NC_000010.9:g.50402813A>C	NCBI36
NG_009442.1:g.19341T>G , LRG_465:g.19341T>G
NG_033155.1:g.4521T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.669T>G MANE Select	ENSP00000348089.5:p.Ser223Arg
ENST00000447839.7:c.669T>G MANE Plus Clinical	ENSP00000387966.2:p.Ser223Arg
ENST00000679596.1:c.*298T>G	ENSP00000504862.1:n.*298T>G
ENST00000679811.1:n.752T>G
ENST00000680107.1:c.652+3656T>G	ENSP00000505909.1:n.652+3656T>G
ENST00000680233.1:n.762T>G
ENST00000681632.1:n.747T>G
ENST00000681659.1:c.669T>G	ENSP00000505631.1:p.Ser223Arg
ENST00000355832.9:c.669T>G	ENSP00000348089.5:p.Ser223Arg
ENST00000447839.6:c.669T>G	ENSP00000387966.2:p.Ser223Arg
ENST00000515869.1:c.669T>G	ENSP00000423550.1:p.Ser223Arg
NM_000124.3:c.669T>G	NP_000115.1:p.Ser223Arg
NM_001277058.1:c.669T>G	NP_001263987.1:p.Ser223Arg
NM_001277059.1:c.669T>G	NP_001263988.1:p.Ser223Arg
NM_001346440.1:c.669T>G	NP_001333369.1:p.Ser223Arg
NM_000124.4:c.669T>G MANE Select	NP_000115.1:p.Ser223Arg
NM_001277058.2:c.669T>G MANE Plus Clinical	NP_001263987.1:p.Ser223Arg
NM_001277059.2:c.669T>G	NP_001263988.1:p.Ser223Arg
NM_001346440.2:c.669T>G	NP_001333369.1:p.Ser223Arg