Canonical Allele Identifier: CA376724299

Gene: ERCC6

Linked Data

• dbSNP Id: rs1247589237
• gnomAD v2: 10-50690815-T-C
• MyVariant Identifiers: chr10:g.50690815T>C (hg19) ; chr10:g.49482769T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482769T>C , CM000672.2:g.49482769T>C	GRCh38
NC_000010.10:g.50690815T>C , CM000672.1:g.50690815T>C	GRCh37
NC_000010.9:g.50360821T>C	NCBI36
NG_009442.1:g.61333A>G , LRG_465:g.61333A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2087A>G MANE Select	ENSP00000348089.5:p.Lys696Arg
ENST00000681632.1:n.2165A>G
ENST00000681659.1:c.1928A>G	ENSP00000505631.1:p.Lys643Arg
ENST00000355832.9:c.2087A>G	ENSP00000348089.5:p.Lys696Arg
ENST00000623073.3:c.*479A>G	ENSP00000485650.1:n.*479A>G
ENST00000623115.3:c.197A>G	ENSP00000485321.1:p.Lys66Arg
NM_000124.3:c.2087A>G	NP_000115.1:p.Lys696Arg
NM_001346440.1:c.2087A>G	NP_001333369.1:p.Lys696Arg
NM_000124.4:c.2087A>G MANE Select	NP_000115.1:p.Lys696Arg
NM_001346440.2:c.2087A>G	NP_001333369.1:p.Lys696Arg