Canonical Allele Identifier: CA1908749199
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49469994G= , CM000672.2:g.49469994G= GRCh38
NC_000010.10:g.50678040G= , CM000672.1:g.50678040G= GRCh37
NC_000010.9:g.50348046G= NCBI36
NG_009442.1:g.74108C= , LRG_465:g.74108C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3778+188C= MANE Select ENSP00000348089.5:n.3778+188C=
ENST00000679552.1:n.849+188C=
ENST00000679871.1:n.924+188C=
ENST00000679974.1:n.827+188C=
ENST00000681632.1:n.5181+188C=
ENST00000681659.1:c.3619+188C= ENSP00000505631.1:n.3619+188C=
ENST00000355832.9:c.3778+188C= ENSP00000348089.5:n.3778+188C=
ENST00000465653.1:n.100+188C=
ENST00000623073.3:c.*2074+188C= ENSP00000485650.1:n.*2074+188C=
ENST00000623115.3:c.1888+188C= ENSP00000485321.1:n.1888+188C=
ENST00000624341.3:c.1610+188C=
NM_000124.3:c.3778+188C= NP_000115.1:n.3778+188C=
XR_945953.1:n.243-1571G=
NM_001346440.1:c.3778+188C= NP_001333369.1:n.3778+188C=
NM_000124.4:c.3778+188C= MANE Select NP_000115.1:n.3778+188C=
NM_001346440.2:c.3778+188C= NP_001333369.1:n.3778+188C=