Canonical Allele Identifier: CA376708803

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669596A>T (hg19) ; chr10:g.49461550A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461550A>T , CM000672.2:g.49461550A>T	GRCh38
NC_000010.10:g.50669596A>T , CM000672.1:g.50669596A>T	GRCh37
NC_000010.9:g.50339602A>T	NCBI36
NG_009442.1:g.82552T>A , LRG_465:g.82552T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3785T>A MANE Select	ENSP00000348089.5:p.Val1262Glu
ENST00000679552.1:n.856T>A
ENST00000679871.1:n.931T>A
ENST00000679974.1:n.834T>A
ENST00000681632.1:n.5188T>A
ENST00000681659.1:c.3626T>A	ENSP00000505631.1:p.Val1209Glu
ENST00000355832.9:c.3785T>A	ENSP00000348089.5:p.Val1262Glu
ENST00000465653.1:n.107T>A
ENST00000623073.3:c.*2081T>A	ENSP00000485650.1:n.*2081T>A
ENST00000623115.3:c.1895T>A	ENSP00000485321.1:p.Val632Glu
ENST00000624341.3:c.1617T>A
NM_000124.3:c.3785T>A	NP_000115.1:p.Val1262Glu
XR_945953.1:n.243-10015A>T
NM_001346440.1:c.3785T>A	NP_001333369.1:p.Val1262Glu
NM_000124.4:c.3785T>A MANE Select	NP_000115.1:p.Val1262Glu
NM_001346440.2:c.3785T>A	NP_001333369.1:p.Val1262Glu