Canonical Allele Identifier: CA376724261

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50690797A>T (hg19) ; chr10:g.49482751A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482751A>T , CM000672.2:g.49482751A>T	GRCh38
NC_000010.10:g.50690797A>T , CM000672.1:g.50690797A>T	GRCh37
NC_000010.9:g.50360803A>T	NCBI36
NG_009442.1:g.61351T>A , LRG_465:g.61351T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2105T>A MANE Select	ENSP00000348089.5:p.Val702Glu
ENST00000681632.1:n.2183T>A
ENST00000681659.1:c.1946T>A	ENSP00000505631.1:p.Val649Glu
ENST00000355832.9:c.2105T>A	ENSP00000348089.5:p.Val702Glu
ENST00000623073.3:c.*497T>A	ENSP00000485650.1:n.*497T>A
ENST00000623115.3:c.215T>A	ENSP00000485321.1:p.Val72Glu
NM_000124.3:c.2105T>A	NP_000115.1:p.Val702Glu
NM_001346440.1:c.2105T>A	NP_001333369.1:p.Val702Glu
NM_000124.4:c.2105T>A MANE Select	NP_000115.1:p.Val702Glu
NM_001346440.2:c.2105T>A	NP_001333369.1:p.Val702Glu