Canonical Allele Identifier: CA469603973

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690739T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482693T>A , CM000672.2:g.49482693T>A	GRCh38
NC_000010.10:g.50690739T>A , CM000672.1:g.50690739T>A	GRCh37
NC_000010.9:g.50360745T>A	NCBI36
NG_009442.1:g.61409A>T , LRG_465:g.61409A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2163A>T MANE Select	ENSP00000348089.5:p.Pro721=
ENST00000681632.1:n.2241A>T
ENST00000681659.1:c.2004A>T	ENSP00000505631.1:p.Pro668=
ENST00000355832.9:c.2163A>T	ENSP00000348089.5:p.Pro721=
ENST00000623073.3:c.*555A>T	ENSP00000485650.1:n.*555A>T
ENST00000623115.3:c.273A>T	ENSP00000485321.1:p.Pro91=
NM_000124.3:c.2163A>T	NP_000115.1:p.Pro721=
NM_001346440.1:c.2163A>T	NP_001333369.1:p.Pro721=
NM_000124.4:c.2163A>T MANE Select	NP_000115.1:p.Pro721=
NM_001346440.2:c.2163A>T	NP_001333369.1:p.Pro721=