Canonical Allele Identifier: CA376728724

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50708621T>A (hg19) ; chr10:g.49500575T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500575T>A , CM000672.2:g.49500575T>A	GRCh38
NC_000010.10:g.50708621T>A , CM000672.1:g.50708621T>A	GRCh37
NC_000010.9:g.50378627T>A	NCBI36
NG_009442.1:g.43527A>T , LRG_465:g.43527A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.1648A>T MANE Select	ENSP00000348089.5:p.Ser550Cys
ENST00000681632.1:n.1726A>T
ENST00000681659.1:c.1526+5309A>T	ENSP00000505631.1:n.1526+5309A>T
ENST00000355832.9:c.1648A>T	ENSP00000348089.5:p.Ser550Cys
ENST00000475116.1:n.238A>T
ENST00000623073.3:c.49A>T	ENSP00000485650.1:p.Ser17Cys
ENST00000623115.3:c.-107A>T	ENSP00000485321.1:n.-107A>T
ENST00000623318.1:c.49A>T	ENSP00000485423.1:p.Ser17Cys
NM_000124.3:c.1648A>T	NP_000115.1:p.Ser550Cys
NM_001346440.1:c.1648A>T	NP_001333369.1:p.Ser550Cys
NM_000124.4:c.1648A>T MANE Select	NP_000115.1:p.Ser550Cys
NM_001346440.2:c.1648A>T	NP_001333369.1:p.Ser550Cys