Canonical Allele Identifier: CA376719102

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 496904
• ClinVar RCV Id: RCV000591568 ; RCV003313967
• dbSNP Id: rs1554875536
• MyVariant Identifiers: chr10:g.50680984G>T (hg19) ; chr10:g.49472938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472938G>T , CM000672.2:g.49472938G>T	GRCh38
NC_000010.10:g.50680984G>T , CM000672.1:g.50680984G>T	GRCh37
NC_000010.9:g.50350990G>T	NCBI36
NG_009442.1:g.71164C>A , LRG_465:g.71164C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2800C>A MANE Select	ENSP00000348089.5:p.Pro934Thr
ENST00000681632.1:n.3765C>A
ENST00000681659.1:c.2641C>A	ENSP00000505631.1:p.Pro881Thr
ENST00000355832.9:c.2800C>A	ENSP00000348089.5:p.Pro934Thr
ENST00000623073.3:c.*1096C>A	ENSP00000485650.1:n.*1096C>A
ENST00000623115.3:c.910C>A	ENSP00000485321.1:p.Pro304Thr
ENST00000624341.3:c.632C>A
NM_000124.3:c.2800C>A	NP_000115.1:p.Pro934Thr
NM_001346440.1:c.2800C>A	NP_001333369.1:p.Pro934Thr
NM_000124.4:c.2800C>A MANE Select	NP_000115.1:p.Pro934Thr
NM_001346440.2:c.2800C>A	NP_001333369.1:p.Pro934Thr