Canonical Allele Identifier: CA376753949

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50732550T>G (hg19) ; chr10:g.49524504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524504T>G , CM000672.2:g.49524504T>G	GRCh38
NC_000010.10:g.50732550T>G , CM000672.1:g.50732550T>G	GRCh37
NC_000010.9:g.50402556T>G	NCBI36
NG_009442.1:g.19598A>C , LRG_465:g.19598A>C
NG_033155.1:g.4778A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.926A>C MANE Select	ENSP00000348089.5:p.Gln309Pro
ENST00000447839.7:c.926A>C MANE Plus Clinical	ENSP00000387966.2:p.Gln309Pro
ENST00000679596.1:c.*555A>C	ENSP00000504862.1:n.*555A>C
ENST00000679811.1:n.1009A>C
ENST00000680107.1:c.652+3913A>C	ENSP00000505909.1:n.652+3913A>C
ENST00000680233.1:n.1019A>C
ENST00000681632.1:n.1004A>C
ENST00000681659.1:c.926A>C	ENSP00000505631.1:p.Gln309Pro
ENST00000355832.9:c.926A>C	ENSP00000348089.5:p.Gln309Pro
ENST00000447839.6:c.926A>C	ENSP00000387966.2:p.Gln309Pro
ENST00000515869.1:c.926A>C	ENSP00000423550.1:p.Gln309Pro
NM_000124.3:c.926A>C	NP_000115.1:p.Gln309Pro
NM_001277058.1:c.926A>C	NP_001263987.1:p.Gln309Pro
NM_001277059.1:c.926A>C	NP_001263988.1:p.Gln309Pro
NM_001346440.1:c.926A>C	NP_001333369.1:p.Gln309Pro
NM_000124.4:c.926A>C MANE Select	NP_000115.1:p.Gln309Pro
NM_001277058.2:c.926A>C MANE Plus Clinical	NP_001263987.1:p.Gln309Pro
NM_001277059.2:c.926A>C	NP_001263988.1:p.Gln309Pro
NM_001346440.2:c.926A>C	NP_001333369.1:p.Gln309Pro