Canonical Allele Identifier: CA1908772775
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493236G= , CM000672.2:g.49493236G= GRCh38
NC_000010.10:g.50701282G= , CM000672.1:g.50701282G= GRCh37
NC_000010.9:g.50371288G= NCBI36
NG_009442.1:g.50866C= , LRG_465:g.50866C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1702C= MANE Select ENSP00000348089.5:p.Pro568=
ENST00000681632.1:n.1780C=
ENST00000681659.1:c.1543C= ENSP00000505631.1:p.Pro515=
ENST00000355832.9:c.1702C= ENSP00000348089.5:p.Pro568=
ENST00000475116.1:n.275+7302C=
ENST00000623073.3:c.103C= ENSP00000485650.1:p.Pro35=
ENST00000623115.3:c.-70+7302C= ENSP00000485321.1:n.-70+7302C=
ENST00000623318.1:c.103C= ENSP00000485423.1:p.Pro35=
NM_000124.3:c.1702C= NP_000115.1:p.Pro568=
NM_001346440.1:c.1702C= NP_001333369.1:p.Pro568=
NM_000124.4:c.1702C= MANE Select NP_000115.1:p.Pro568=
NM_001346440.2:c.1702C= NP_001333369.1:p.Pro568=