Canonical Allele Identifier: CA2580081540

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2009760
• ClinVar RCV Id: RCV002842667
• gnomAD v4: 10-49530700-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49530700T>A , CM000672.2:g.49530700T>A	GRCh38
NC_000010.10:g.50738746T>A , CM000672.1:g.50738746T>A	GRCh37
NC_000010.9:g.50408752T>A	NCBI36
NG_009442.1:g.13402A>T , LRG_465:g.13402A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.543+20A>T MANE Select	ENSP00000348089.5:n.543+20A>T
ENST00000447839.7:c.543+20A>T MANE Plus Clinical	ENSP00000387966.2:n.543+20A>T
ENST00000679596.1:c.*172+1843A>T	ENSP00000504862.1:n.*172+1843A>T
ENST00000679811.1:n.626+20A>T
ENST00000680107.1:c.543+20A>T	ENSP00000505909.1:n.543+20A>T
ENST00000680233.1:n.636+20A>T
ENST00000681632.1:n.621+20A>T
ENST00000681659.1:c.543+20A>T	ENSP00000505631.1:n.543+20A>T
ENST00000355832.9:c.543+20A>T	ENSP00000348089.5:n.543+20A>T
ENST00000447839.6:c.543+20A>T	ENSP00000387966.2:n.543+20A>T
ENST00000479652.1:n.18+20A>T
ENST00000515869.1:c.543+20A>T	ENSP00000423550.1:n.543+20A>T
NM_000124.3:c.543+20A>T	NP_000115.1:n.543+20A>T
NM_001277058.1:c.543+20A>T	NP_001263987.1:n.543+20A>T
NM_001277059.1:c.543+20A>T	NP_001263988.1:n.543+20A>T
NM_001346440.1:c.543+20A>T	NP_001333369.1:n.543+20A>T
NM_000124.4:c.543+20A>T MANE Select	NP_000115.1:n.543+20A>T
NM_001277058.2:c.543+20A>T MANE Plus Clinical	NP_001263987.1:n.543+20A>T
NM_001277059.2:c.543+20A>T	NP_001263988.1:n.543+20A>T
NM_001346440.2:c.543+20A>T	NP_001333369.1:n.543+20A>T