Canonical Allele Identifier: CA1908773642
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49530715A= , CM000672.2:g.49530715A= GRCh38
NC_000010.10:g.50738761A= , CM000672.1:g.50738761A= GRCh37
NC_000010.9:g.50408767A= NCBI36
NG_009442.1:g.13387T= , LRG_465:g.13387T=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.543+5T= MANE Select ENSP00000348089.5:n.543+5T=
ENST00000447839.7:c.543+5T= MANE Plus Clinical ENSP00000387966.2:n.543+5T=
ENST00000679596.1:c.*172+1828T= ENSP00000504862.1:n.*172+1828T=
ENST00000679811.1:n.626+5T=
ENST00000680107.1:c.543+5T= ENSP00000505909.1:n.543+5T=
ENST00000680233.1:n.636+5T=
ENST00000681632.1:n.621+5T=
ENST00000681659.1:c.543+5T= ENSP00000505631.1:n.543+5T=
ENST00000355832.9:c.543+5T= ENSP00000348089.5:n.543+5T=
ENST00000447839.6:c.543+5T= ENSP00000387966.2:n.543+5T=
ENST00000479652.1:n.18+5T=
ENST00000515869.1:c.543+5T= ENSP00000423550.1:n.543+5T=
NM_000124.3:c.543+5T= NP_000115.1:n.543+5T=
NM_001277058.1:c.543+5T= NP_001263987.1:n.543+5T=
NM_001277059.1:c.543+5T= NP_001263988.1:n.543+5T=
NM_001346440.1:c.543+5T= NP_001333369.1:n.543+5T=
NM_000124.4:c.543+5T= MANE Select NP_000115.1:n.543+5T=
NM_001277058.2:c.543+5T= MANE Plus Clinical NP_001263987.1:n.543+5T=
NM_001277059.2:c.543+5T= NP_001263988.1:n.543+5T=
NM_001346440.2:c.543+5T= NP_001333369.1:n.543+5T=