Canonical Allele Identifier: CA376708363

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669485A>T (hg19) ; chr10:g.49461439A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461439A>T , CM000672.2:g.49461439A>T	GRCh38
NC_000010.10:g.50669485A>T , CM000672.1:g.50669485A>T	GRCh37
NC_000010.9:g.50339491A>T	NCBI36
NG_009442.1:g.82663T>A , LRG_465:g.82663T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3896T>A MANE Select	ENSP00000348089.5:p.Leu1299His
ENST00000679552.1:n.967T>A
ENST00000679871.1:n.1042T>A
ENST00000679974.1:n.945T>A
ENST00000681632.1:n.5299T>A
ENST00000681659.1:c.3737T>A	ENSP00000505631.1:p.Leu1246His
ENST00000355832.9:c.3896T>A	ENSP00000348089.5:p.Leu1299His
ENST00000465653.1:n.218T>A
ENST00000623073.3:c.*2192T>A	ENSP00000485650.1:n.*2192T>A
ENST00000623115.3:c.2006T>A	ENSP00000485321.1:p.Leu669His
ENST00000624341.3:c.1728T>A
NM_000124.3:c.3896T>A	NP_000115.1:p.Leu1299His
XR_945953.1:n.243-10126A>T
NM_001346440.1:c.3896T>A	NP_001333369.1:p.Leu1299His
NM_000124.4:c.3896T>A MANE Select	NP_000115.1:p.Leu1299His
NM_001346440.2:c.3896T>A	NP_001333369.1:p.Leu1299His