Canonical Allele Identifier: CA1908749272
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470153C= , CM000672.2:g.49470153C= GRCh38
NC_000010.10:g.50678199C= , CM000672.1:g.50678199C= GRCh37
NC_000010.9:g.50348205C= NCBI36
NG_009442.1:g.73949G= , LRG_465:g.73949G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3778+29G= MANE Select ENSP00000348089.5:n.3778+29G=
ENST00000679552.1:n.849+29G=
ENST00000679871.1:n.924+29G=
ENST00000679974.1:n.827+29G=
ENST00000681632.1:n.5181+29G=
ENST00000681659.1:c.3619+29G= ENSP00000505631.1:n.3619+29G=
ENST00000355832.9:c.3778+29G= ENSP00000348089.5:n.3778+29G=
ENST00000465653.1:n.100+29G=
ENST00000623073.3:c.*2074+29G= ENSP00000485650.1:n.*2074+29G=
ENST00000623115.3:c.1888+29G= ENSP00000485321.1:n.1888+29G=
ENST00000624341.3:c.1610+29G=
NM_000124.3:c.3778+29G= NP_000115.1:n.3778+29G=
XR_945953.1:n.243-1412C=
NM_001346440.1:c.3778+29G= NP_001333369.1:n.3778+29G=
NM_000124.4:c.3778+29G= MANE Select NP_000115.1:n.3778+29G=
NM_001346440.2:c.3778+29G= NP_001333369.1:n.3778+29G=