Canonical Allele Identifier: CA376724303

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690816T>G (hg19) ; chr10:g.49482770T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482770T>G , CM000672.2:g.49482770T>G	GRCh38
NC_000010.10:g.50690816T>G , CM000672.1:g.50690816T>G	GRCh37
NC_000010.9:g.50360822T>G	NCBI36
NG_009442.1:g.61332A>C , LRG_465:g.61332A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2086A>C MANE Select	ENSP00000348089.5:p.Lys696Gln
ENST00000681632.1:n.2164A>C
ENST00000681659.1:c.1927A>C	ENSP00000505631.1:p.Lys643Gln
ENST00000355832.9:c.2086A>C	ENSP00000348089.5:p.Lys696Gln
ENST00000623073.3:c.*478A>C	ENSP00000485650.1:n.*478A>C
ENST00000623115.3:c.196A>C	ENSP00000485321.1:p.Lys66Gln
NM_000124.3:c.2086A>C	NP_000115.1:p.Lys696Gln
NM_001346440.1:c.2086A>C	NP_001333369.1:p.Lys696Gln
NM_000124.4:c.2086A>C MANE Select	NP_000115.1:p.Lys696Gln
NM_001346440.2:c.2086A>C	NP_001333369.1:p.Lys696Gln