Canonical Allele Identifier: CA1908753038
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49514891T= , CM000672.2:g.49514891T= GRCh38
NC_000010.10:g.50722937T= , CM000672.1:g.50722937T= GRCh37
NC_000010.9:g.50392943T= NCBI36
NG_009442.1:g.29211A= , LRG_465:g.29211A=
NG_033155.1:g.14391A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1398-8879A= MANE Select ENSP00000348089.5:n.1398-8879A=
ENST00000679811.1:n.1481-8879A=
ENST00000680107.1:c.*2208A= ENSP00000505909.1:n.*2208A=
ENST00000681632.1:n.1476-8879A=
ENST00000681659.1:c.1398-8879A= ENSP00000505631.1:n.1398-8879A=
ENST00000355832.9:c.1398-8879A= ENSP00000348089.5:n.1398-8879A=
NM_000124.3:c.1398-8879A= NP_000115.1:n.1398-8879A=
NM_001346440.1:c.1398-8879A= NP_001333369.1:n.1398-8879A=
NM_000124.4:c.1398-8879A= MANE Select NP_000115.1:n.1398-8879A=
NM_001346440.2:c.1398-8879A= NP_001333369.1:n.1398-8879A=