Canonical Allele Identifier: CA1908745044
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49460351G= , CM000672.2:g.49460351G= GRCh38
NC_000010.10:g.50668397G= , CM000672.1:g.50668397G= GRCh37
NC_000010.9:g.50338403G= NCBI36
NG_009442.1:g.83751C= , LRG_465:g.83751C=

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.4062+22C= MANE Select ENSP00000348089.5:n.4062+22C=
ENST00000679552.1:n.1155C=
ENST00000679871.1:n.1208+22C=
ENST00000679974.1:n.1111+22C=
ENST00000681632.1:n.5465+22C=
ENST00000681659.1:c.3903+22C= ENSP00000505631.1:n.3903+22C=
ENST00000355832.9:c.4062+22C= ENSP00000348089.5:n.4062+22C=
ENST00000465653.1:n.406C=
ENST00000623073.3:c.*2358+22C= ENSP00000485650.1:n.*2358+22C=
ENST00000623115.3:c.2172+22C= ENSP00000485321.1:n.2172+22C=
ENST00000624341.3:c.1894+22C=
NM_000124.3:c.4062+22C= NP_000115.1:n.4062+22C=
XR_945953.1:n.243-11214G=
NM_001346440.1:c.4062+22C= NP_001333369.1:n.4062+22C=
NM_000124.4:c.4062+22C= MANE Select NP_000115.1:n.4062+22C=
NM_001346440.2:c.4062+22C= NP_001333369.1:n.4062+22C=