Canonical Allele Identifier: CA376708191

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2893607
• ClinVar RCV Id: RCV003732907
• MyVariant Identifiers: chr10:g.50669396A>T (hg19) ; chr10:g.49461350A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461350A>T , CM000672.2:g.49461350A>T	GRCh38
NC_000010.10:g.50669396A>T , CM000672.1:g.50669396A>T	GRCh37
NC_000010.9:g.50339402A>T	NCBI36
NG_009442.1:g.82752T>A , LRG_465:g.82752T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3983+2T>A MANE Select	ENSP00000348089.5:n.3983+2T>A
ENST00000679552.1:n.1054+2T>A
ENST00000679871.1:n.1129+2T>A
ENST00000679974.1:n.1032+2T>A
ENST00000681632.1:n.5386+2T>A
ENST00000681659.1:c.3824+2T>A	ENSP00000505631.1:n.3824+2T>A
ENST00000355832.9:c.3983+2T>A	ENSP00000348089.5:n.3983+2T>A
ENST00000465653.1:n.305+2T>A
ENST00000623073.3:c.*2279+2T>A	ENSP00000485650.1:n.*2279+2T>A
ENST00000623115.3:c.2093+2T>A	ENSP00000485321.1:n.2093+2T>A
ENST00000624341.3:c.1815+2T>A
NM_000124.3:c.3983+2T>A	NP_000115.1:n.3983+2T>A
XR_945953.1:n.243-10215A>T
NM_001346440.1:c.3983+2T>A	NP_001333369.1:n.3983+2T>A
NM_000124.4:c.3983+2T>A MANE Select	NP_000115.1:n.3983+2T>A
NM_001346440.2:c.3983+2T>A	NP_001333369.1:n.3983+2T>A