Canonical Allele Identifier: CA376712399

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1994058
• ClinVar RCV Id: RCV002806575
• MyVariant Identifiers: chr10:g.50678248T>C (hg19) ; chr10:g.49470202T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470202T>C , CM000672.2:g.49470202T>C	GRCh38
NC_000010.10:g.50678248T>C , CM000672.1:g.50678248T>C	GRCh37
NC_000010.9:g.50348254T>C	NCBI36
NG_009442.1:g.73900A>G , LRG_465:g.73900A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3758A>G MANE Select	ENSP00000348089.5:p.Glu1253Gly
ENST00000679552.1:n.829A>G
ENST00000679871.1:n.904A>G
ENST00000679974.1:n.807A>G
ENST00000681632.1:n.5161A>G
ENST00000681659.1:c.3599A>G	ENSP00000505631.1:p.Glu1200Gly
ENST00000355832.9:c.3758A>G	ENSP00000348089.5:p.Glu1253Gly
ENST00000465653.1:n.80A>G
ENST00000623073.3:c.*2054A>G	ENSP00000485650.1:n.*2054A>G
ENST00000623115.3:c.1868A>G	ENSP00000485321.1:p.Glu623Gly
ENST00000624341.3:c.1590A>G
NM_000124.3:c.3758A>G	NP_000115.1:p.Glu1253Gly
XR_945953.1:n.243-1363T>C
NM_001346440.1:c.3758A>G	NP_001333369.1:p.Glu1253Gly
NM_000124.4:c.3758A>G MANE Select	NP_000115.1:p.Glu1253Gly
NM_001346440.2:c.3758A>G	NP_001333369.1:p.Glu1253Gly