Canonical Allele Identifier: CA1908749598
Gene: ERCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470856T= , CM000672.2:g.49470856T= GRCh38
NC_000010.10:g.50678902T= , CM000672.1:g.50678902T= GRCh37
NC_000010.9:g.50348908T= NCBI36
NG_009442.1:g.73246A= , LRG_465:g.73246A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3104A= MANE Select ENSP00000348089.5:p.His1035=
ENST00000679552.1:n.175A=
ENST00000679871.1:n.250A=
ENST00000679974.1:n.153A=
ENST00000681632.1:n.4507A=
ENST00000681659.1:c.2945A= ENSP00000505631.1:p.His982=
ENST00000355832.9:c.3104A= ENSP00000348089.5:p.His1035=
ENST00000623073.3:c.*1400A= ENSP00000485650.1:n.*1400A=
ENST00000623115.3:c.1214A= ENSP00000485321.1:p.His405=
ENST00000624341.3:c.936A=
NM_000124.3:c.3104A= NP_000115.1:p.His1035=
XR_945953.1:n.243-709T=
NM_001346440.1:c.3104A= NP_001333369.1:p.His1035=
NM_000124.4:c.3104A= MANE Select NP_000115.1:p.His1035=
NM_001346440.2:c.3104A= NP_001333369.1:p.His1035=