Canonical Allele Identifier: CA376717706

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679111G>C (hg19) ; chr10:g.49471065G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471065G>C , CM000672.2:g.49471065G>C	GRCh38
NC_000010.10:g.50679111G>C , CM000672.1:g.50679111G>C	GRCh37
NC_000010.9:g.50349117G>C	NCBI36
NG_009442.1:g.73037C>G , LRG_465:g.73037C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2980C>G MANE Select	ENSP00000348089.5:p.Arg994Gly
ENST00000679552.1:n.142-176C>G
ENST00000679871.1:n.126C>G
ENST00000679974.1:n.120-176C>G
ENST00000681632.1:n.4383C>G
ENST00000681659.1:c.2821C>G	ENSP00000505631.1:p.Arg941Gly
ENST00000355832.9:c.2980C>G	ENSP00000348089.5:p.Arg994Gly
ENST00000623073.3:c.*1276C>G	ENSP00000485650.1:n.*1276C>G
ENST00000623115.3:c.1090C>G	ENSP00000485321.1:p.Arg364Gly
ENST00000624341.3:c.812C>G
NM_000124.3:c.2980C>G	NP_000115.1:p.Arg994Gly
XR_945953.1:n.243-500G>C
NM_001346440.1:c.2980C>G	NP_001333369.1:p.Arg994Gly
NM_000124.4:c.2980C>G MANE Select	NP_000115.1:p.Arg994Gly
NM_001346440.2:c.2980C>G	NP_001333369.1:p.Arg994Gly