Canonical Allele Identifier: CA1908760542
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482845T= , CM000672.2:g.49482845T= GRCh38
NC_000010.10:g.50690891T= , CM000672.1:g.50690891T= GRCh37
NC_000010.9:g.50360897T= NCBI36
NG_009442.1:g.61257A= , LRG_465:g.61257A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2011A= MANE Select ENSP00000348089.5:p.Ile671=
ENST00000681632.1:n.2089A=
ENST00000681659.1:c.1852A= ENSP00000505631.1:p.Ile618=
ENST00000355832.9:c.2011A= ENSP00000348089.5:p.Ile671=
ENST00000623073.3:c.*403A= ENSP00000485650.1:n.*403A=
ENST00000623115.3:c.121A= ENSP00000485321.1:p.Ile41=
NM_000124.3:c.2011A= NP_000115.1:p.Ile671=
NM_001346440.1:c.2011A= NP_001333369.1:p.Ile671=
NM_000124.4:c.2011A= MANE Select NP_000115.1:p.Ile671=
NM_001346440.2:c.2011A= NP_001333369.1:p.Ile671=