Canonical Allele Identifier: CA376726395

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50701166T>G (hg19) ; chr10:g.49493120T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493120T>G , CM000672.2:g.49493120T>G	GRCh38
NC_000010.10:g.50701166T>G , CM000672.1:g.50701166T>G	GRCh37
NC_000010.9:g.50371172T>G	NCBI36
NG_009442.1:g.50982A>C , LRG_465:g.50982A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1818A>C MANE Select	ENSP00000348089.5:p.Lys606Asn
ENST00000681632.1:n.1896A>C
ENST00000681659.1:c.1659A>C	ENSP00000505631.1:p.Lys553Asn
ENST00000355832.9:c.1818A>C	ENSP00000348089.5:p.Lys606Asn
ENST00000475116.1:n.275+7418A>C
ENST00000623073.3:c.219A>C	ENSP00000485650.1:p.Lys73Asn
ENST00000623115.3:c.-70+7418A>C	ENSP00000485321.1:n.-70+7418A>C
ENST00000623318.1:c.219A>C	ENSP00000485423.1:p.Lys73Asn
NM_000124.3:c.1818A>C	NP_000115.1:p.Lys606Asn
NM_001346440.1:c.1818A>C	NP_001333369.1:p.Lys606Asn
NM_000124.4:c.1818A>C MANE Select	NP_000115.1:p.Lys606Asn
NM_001346440.2:c.1818A>C	NP_001333369.1:p.Lys606Asn