Canonical Allele Identifier: CA376717133

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678917T>C (hg19) ; chr10:g.49470871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470871T>C , CM000672.2:g.49470871T>C	GRCh38
NC_000010.10:g.50678917T>C , CM000672.1:g.50678917T>C	GRCh37
NC_000010.9:g.50348923T>C	NCBI36
NG_009442.1:g.73231A>G , LRG_465:g.73231A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3089A>G MANE Select	ENSP00000348089.5:p.Gln1030Arg
ENST00000679552.1:n.160A>G
ENST00000679871.1:n.235A>G
ENST00000679974.1:n.138A>G
ENST00000681632.1:n.4492A>G
ENST00000681659.1:c.2930A>G	ENSP00000505631.1:p.Gln977Arg
ENST00000355832.9:c.3089A>G	ENSP00000348089.5:p.Gln1030Arg
ENST00000623073.3:c.*1385A>G	ENSP00000485650.1:n.*1385A>G
ENST00000623115.3:c.1199A>G	ENSP00000485321.1:p.Gln400Arg
ENST00000624341.3:c.921A>G
NM_000124.3:c.3089A>G	NP_000115.1:p.Gln1030Arg
XR_945953.1:n.243-694T>C
NM_001346440.1:c.3089A>G	NP_001333369.1:p.Gln1030Arg
NM_000124.4:c.3089A>G MANE Select	NP_000115.1:p.Gln1030Arg
NM_001346440.2:c.3089A>G	NP_001333369.1:p.Gln1030Arg