Canonical Allele Identifier: CA5495466

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 727959
• ClinVar RCV Id: RCV000902364 ; RCV001103341 ; RCV001108519 ; RCV001103342
• dbSNP Id: rs147637331
• ExAC: 10:50679174 A / T
• gnomAD v2: 10-50679174-A-T
• gnomAD v3: 10-49471128-A-T
• gnomAD v4: 10-49471128-A-T
• MyVariant Identifiers: chr10:g.50679174A>T (hg19) ; chr10:g.49471128A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471128A>T , CM000672.2:g.49471128A>T	GRCh38
NC_000010.10:g.50679174A>T , CM000672.1:g.50679174A>T	GRCh37
NC_000010.9:g.50349180A>T	NCBI36
NG_009442.1:g.72974T>A , LRG_465:g.72974T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2925-8T>A MANE Select	ENSP00000348089.5:n.2925-8T>A
ENST00000679552.1:n.142-239T>A
ENST00000679871.1:n.71-8T>A
ENST00000679974.1:n.120-239T>A
ENST00000681632.1:n.4328-8T>A
ENST00000681659.1:c.2766-8T>A	ENSP00000505631.1:n.2766-8T>A
ENST00000355832.9:c.2925-8T>A	ENSP00000348089.5:n.2925-8T>A
ENST00000623073.3:c.*1221-8T>A	ENSP00000485650.1:n.*1221-8T>A
ENST00000623115.3:c.1035-8T>A	ENSP00000485321.1:n.1035-8T>A
ENST00000624341.3:c.757-8T>A
NM_000124.3:c.2925-8T>A	NP_000115.1:n.2925-8T>A
XR_945953.1:n.243-437A>T
NM_001346440.1:c.2925-8T>A	NP_001333369.1:n.2925-8T>A
NM_000124.4:c.2925-8T>A MANE Select	NP_000115.1:n.2925-8T>A
NM_001346440.2:c.2925-8T>A	NP_001333369.1:n.2925-8T>A