Canonical Allele Identifier: CA1908750274
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49472376C= , CM000672.2:g.49472376C= GRCh38
NC_000010.10:g.50680422C= , CM000672.1:g.50680422C= GRCh37
NC_000010.9:g.50350428C= NCBI36
NG_009442.1:g.71726G= , LRG_465:g.71726G=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.2924G= MANE Select ENSP00000348089.5:p.Arg975=
ENST00000681632.1:n.4327G=
ENST00000681659.1:c.2765G= ENSP00000505631.1:p.Arg922=
ENST00000355832.9:c.2924G= ENSP00000348089.5:p.Arg975=
ENST00000623073.3:c.*1220G= ENSP00000485650.1:n.*1220G=
ENST00000623115.3:c.1034G= ENSP00000485321.1:p.Arg345=
ENST00000624341.3:c.756G=
NM_000124.3:c.2924G= NP_000115.1:p.Arg975=
XR_945953.1:n.690-327C=
NM_001346440.1:c.2924G= NP_001333369.1:p.Arg975=
NM_000124.4:c.2924G= MANE Select NP_000115.1:p.Arg975=
NM_001346440.2:c.2924G= NP_001333369.1:p.Arg975=