Canonical Allele Identifier: CA376717662

Gene: ERCC6

Linked Data

• dbSNP Id: rs766459533
• gnomAD v4: 10-49471055-T-C
• MyVariant Identifiers: chr10:g.50679101T>C (hg19) ; chr10:g.49471055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471055T>C , CM000672.2:g.49471055T>C	GRCh38
NC_000010.10:g.50679101T>C , CM000672.1:g.50679101T>C	GRCh37
NC_000010.9:g.50349107T>C	NCBI36
NG_009442.1:g.73047A>G , LRG_465:g.73047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2990A>G MANE Select	ENSP00000348089.5:p.Lys997Arg
ENST00000679552.1:n.142-166A>G
ENST00000679871.1:n.136A>G
ENST00000679974.1:n.120-166A>G
ENST00000681632.1:n.4393A>G
ENST00000681659.1:c.2831A>G	ENSP00000505631.1:p.Lys944Arg
ENST00000355832.9:c.2990A>G	ENSP00000348089.5:p.Lys997Arg
ENST00000623073.3:c.*1286A>G	ENSP00000485650.1:n.*1286A>G
ENST00000623115.3:c.1100A>G	ENSP00000485321.1:p.Lys367Arg
ENST00000624341.3:c.822A>G
NM_000124.3:c.2990A>G	NP_000115.1:p.Lys997Arg
XR_945953.1:n.243-510T>C
NM_001346440.1:c.2990A>G	NP_001333369.1:p.Lys997Arg
NM_000124.4:c.2990A>G MANE Select	NP_000115.1:p.Lys997Arg
NM_001346440.2:c.2990A>G	NP_001333369.1:p.Lys997Arg