Canonical Allele Identifier: CA2609139470
Gene: ERCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49530609A>T , CM000672.2:g.49530609A>T GRCh38
NC_000010.10:g.50738655A>T , CM000672.1:g.50738655A>T GRCh37
NC_000010.9:g.50408661A>T NCBI36
NG_009442.1:g.13493T>A , LRG_465:g.13493T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.543+111T>A MANE Select ENSP00000348089.5:n.543+111T>A
ENST00000447839.7:c.543+111T>A MANE Plus Clinical ENSP00000387966.2:n.543+111T>A
ENST00000679596.1:c.*172+1934T>A ENSP00000504862.1:n.*172+1934T>A
ENST00000679811.1:n.626+111T>A
ENST00000680107.1:c.543+111T>A ENSP00000505909.1:n.543+111T>A
ENST00000680233.1:n.636+111T>A
ENST00000681632.1:n.621+111T>A
ENST00000681659.1:c.543+111T>A ENSP00000505631.1:n.543+111T>A
ENST00000355832.9:c.543+111T>A ENSP00000348089.5:n.543+111T>A
ENST00000447839.6:c.543+111T>A ENSP00000387966.2:n.543+111T>A
ENST00000479652.1:n.18+111T>A
ENST00000515869.1:c.543+111T>A ENSP00000423550.1:n.543+111T>A
NM_000124.3:c.543+111T>A NP_000115.1:n.543+111T>A
NM_001277058.1:c.543+111T>A NP_001263987.1:n.543+111T>A
NM_001277059.1:c.543+111T>A NP_001263988.1:n.543+111T>A
NM_001346440.1:c.543+111T>A NP_001333369.1:n.543+111T>A
NM_000124.4:c.543+111T>A MANE Select NP_000115.1:n.543+111T>A
NM_001277058.2:c.543+111T>A MANE Plus Clinical NP_001263987.1:n.543+111T>A
NM_001277059.2:c.543+111T>A NP_001263988.1:n.543+111T>A
NM_001346440.2:c.543+111T>A NP_001333369.1:n.543+111T>A