Canonical Allele Identifier: CA376729226

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708735G>T (hg19) ; chr10:g.49500689G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500689G>T , CM000672.2:g.49500689G>T	GRCh38
NC_000010.10:g.50708735G>T , CM000672.1:g.50708735G>T	GRCh37
NC_000010.9:g.50378741G>T	NCBI36
NG_009442.1:g.43413C>A , LRG_465:g.43413C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1534C>A MANE Select	ENSP00000348089.5:p.Gln512Lys
ENST00000681632.1:n.1612C>A
ENST00000681659.1:c.1526+5195C>A	ENSP00000505631.1:n.1526+5195C>A
ENST00000355832.9:c.1534C>A	ENSP00000348089.5:p.Gln512Lys
ENST00000475116.1:n.124C>A
ENST00000623073.3:c.-66C>A	ENSP00000485650.1:n.-66C>A
ENST00000623115.3:c.-221C>A	ENSP00000485321.1:n.-221C>A
ENST00000623318.1:c.-66C>A	ENSP00000485423.1:n.-66C>A
ENST00000623788.1:n.533C>A
NM_000124.3:c.1534C>A	NP_000115.1:p.Gln512Lys
NM_001346440.1:c.1534C>A	NP_001333369.1:p.Gln512Lys
NM_000124.4:c.1534C>A MANE Select	NP_000115.1:p.Gln512Lys
NM_001346440.2:c.1534C>A	NP_001333369.1:p.Gln512Lys