Canonical Allele Identifier: CA376716011

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1717093
• ClinVar RCV Id: RCV002296269
• MyVariant Identifiers: chr10:g.50678732T>C (hg19) ; chr10:g.49470686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470686T>C , CM000672.2:g.49470686T>C	GRCh38
NC_000010.10:g.50678732T>C , CM000672.1:g.50678732T>C	GRCh37
NC_000010.9:g.50348738T>C	NCBI36
NG_009442.1:g.73416A>G , LRG_465:g.73416A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3274A>G MANE Select	ENSP00000348089.5:p.Lys1092Glu
ENST00000679552.1:n.345A>G
ENST00000679871.1:n.420A>G
ENST00000679974.1:n.323A>G
ENST00000681632.1:n.4677A>G
ENST00000681659.1:c.3115A>G	ENSP00000505631.1:p.Lys1039Glu
ENST00000355832.9:c.3274A>G	ENSP00000348089.5:p.Lys1092Glu
ENST00000623073.3:c.*1570A>G	ENSP00000485650.1:n.*1570A>G
ENST00000623115.3:c.1384A>G	ENSP00000485321.1:p.Lys462Glu
ENST00000624341.3:c.1106A>G
NM_000124.3:c.3274A>G	NP_000115.1:p.Lys1092Glu
XR_945953.1:n.243-879T>C
NM_001346440.1:c.3274A>G	NP_001333369.1:p.Lys1092Glu
NM_000124.4:c.3274A>G MANE Select	NP_000115.1:p.Lys1092Glu
NM_001346440.2:c.3274A>G	NP_001333369.1:p.Lys1092Glu