Canonical Allele Identifier: CA376724273

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690803A>C (hg19) ; chr10:g.49482757A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482757A>C , CM000672.2:g.49482757A>C	GRCh38
NC_000010.10:g.50690803A>C , CM000672.1:g.50690803A>C	GRCh37
NC_000010.9:g.50360809A>C	NCBI36
NG_009442.1:g.61345T>G , LRG_465:g.61345T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2099T>G MANE Select	ENSP00000348089.5:p.Leu700Trp
ENST00000681632.1:n.2177T>G
ENST00000681659.1:c.1940T>G	ENSP00000505631.1:p.Leu647Trp
ENST00000355832.9:c.2099T>G	ENSP00000348089.5:p.Leu700Trp
ENST00000623073.3:c.*491T>G	ENSP00000485650.1:n.*491T>G
ENST00000623115.3:c.209T>G	ENSP00000485321.1:p.Leu70Trp
NM_000124.3:c.2099T>G	NP_000115.1:p.Leu700Trp
NM_001346440.1:c.2099T>G	NP_001333369.1:p.Leu700Trp
NM_000124.4:c.2099T>G MANE Select	NP_000115.1:p.Leu700Trp
NM_001346440.2:c.2099T>G	NP_001333369.1:p.Leu700Trp