Canonical Allele Identifier: CA1908749556
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470770T= , CM000672.2:g.49470770T= GRCh38
NC_000010.10:g.50678816T= , CM000672.1:g.50678816T= GRCh37
NC_000010.9:g.50348822T= NCBI36
NG_009442.1:g.73332A= , LRG_465:g.73332A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3190A= MANE Select ENSP00000348089.5:p.Asn1064=
ENST00000679552.1:n.261A=
ENST00000679871.1:n.336A=
ENST00000679974.1:n.239A=
ENST00000681632.1:n.4593A=
ENST00000681659.1:c.3031A= ENSP00000505631.1:p.Asn1011=
ENST00000355832.9:c.3190A= ENSP00000348089.5:p.Asn1064=
ENST00000623073.3:c.*1486A= ENSP00000485650.1:n.*1486A=
ENST00000623115.3:c.1300A= ENSP00000485321.1:p.Asn434=
ENST00000624341.3:c.1022A=
NM_000124.3:c.3190A= NP_000115.1:p.Asn1064=
XR_945953.1:n.243-795T=
NM_001346440.1:c.3190A= NP_001333369.1:p.Asn1064=
NM_000124.4:c.3190A= MANE Select NP_000115.1:p.Asn1064=
NM_001346440.2:c.3190A= NP_001333369.1:p.Asn1064=