Canonical Allele Identifier: CA376708151

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50668484T>A (hg19) ; chr10:g.49460438T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460438T>A , CM000672.2:g.49460438T>A	GRCh38
NC_000010.10:g.50668484T>A , CM000672.1:g.50668484T>A	GRCh37
NC_000010.9:g.50338490T>A	NCBI36
NG_009442.1:g.83664A>T , LRG_465:g.83664A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3997A>T MANE Select	ENSP00000348089.5:p.Lys1333Ter
ENST00000679552.1:n.1068A>T
ENST00000679871.1:n.1143A>T
ENST00000679974.1:n.1046A>T
ENST00000681632.1:n.5400A>T
ENST00000681659.1:c.3838A>T	ENSP00000505631.1:p.Lys1280Ter
ENST00000355832.9:c.3997A>T	ENSP00000348089.5:p.Lys1333Ter
ENST00000465653.1:n.319A>T
ENST00000623073.3:c.*2293A>T	ENSP00000485650.1:n.*2293A>T
ENST00000623115.3:c.2107A>T	ENSP00000485321.1:p.Lys703Ter
ENST00000624341.3:c.1829A>T
NM_000124.3:c.3997A>T	NP_000115.1:p.Lys1333Ter
XR_945953.1:n.243-11127T>A
NM_001346440.1:c.3997A>T	NP_001333369.1:p.Lys1333Ter
NM_000124.4:c.3997A>T MANE Select	NP_000115.1:p.Lys1333Ter
NM_001346440.2:c.3997A>T	NP_001333369.1:p.Lys1333Ter