Canonical Allele Identifier: CA376754372

Gene: ERCC6

Linked Data

• dbSNP Id: rs1564442652
• MyVariant Identifiers: chr10:g.50732625T>G (hg19) ; chr10:g.49524579T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524579T>G , CM000672.2:g.49524579T>G	GRCh38
NC_000010.10:g.50732625T>G , CM000672.1:g.50732625T>G	GRCh37
NC_000010.9:g.50402631T>G	NCBI36
NG_009442.1:g.19523A>C , LRG_465:g.19523A>C
NG_033155.1:g.4703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.851A>C MANE Select	ENSP00000348089.5:p.Glu284Ala
ENST00000447839.7:c.851A>C MANE Plus Clinical	ENSP00000387966.2:p.Glu284Ala
ENST00000679596.1:c.*480A>C	ENSP00000504862.1:n.*480A>C
ENST00000679811.1:n.934A>C
ENST00000680107.1:c.652+3838A>C	ENSP00000505909.1:n.652+3838A>C
ENST00000680233.1:n.944A>C
ENST00000681632.1:n.929A>C
ENST00000681659.1:c.851A>C	ENSP00000505631.1:p.Glu284Ala
ENST00000355832.9:c.851A>C	ENSP00000348089.5:p.Glu284Ala
ENST00000447839.6:c.851A>C	ENSP00000387966.2:p.Glu284Ala
ENST00000515869.1:c.851A>C	ENSP00000423550.1:p.Glu284Ala
NM_000124.3:c.851A>C	NP_000115.1:p.Glu284Ala
NM_001277058.1:c.851A>C	NP_001263987.1:p.Glu284Ala
NM_001277059.1:c.851A>C	NP_001263988.1:p.Glu284Ala
NM_001346440.1:c.851A>C	NP_001333369.1:p.Glu284Ala
NM_000124.4:c.851A>C MANE Select	NP_000115.1:p.Glu284Ala
NM_001277058.2:c.851A>C MANE Plus Clinical	NP_001263987.1:p.Glu284Ala
NM_001277059.2:c.851A>C	NP_001263988.1:p.Glu284Ala
NM_001346440.2:c.851A>C	NP_001333369.1:p.Glu284Ala