Canonical Allele Identifier: CA206576216
Gene: ERCC6 HGNC NCBI

Linked Data

dbSNP Id: rs937200876

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49461386G>A , CM000672.2:g.49461386G>A GRCh38
NC_000010.10:g.50669432G>A , CM000672.1:g.50669432G>A GRCh37
NC_000010.9:g.50339438G>A NCBI36
NG_009442.1:g.82716C>T , LRG_465:g.82716C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3949C>T MANE Select ENSP00000348089.5:p.His1317Tyr
ENST00000679552.1:n.1020C>T
ENST00000679871.1:n.1095C>T
ENST00000679974.1:n.998C>T
ENST00000681632.1:n.5352C>T
ENST00000681659.1:c.3790C>T ENSP00000505631.1:p.His1264Tyr
ENST00000355832.9:c.3949C>T ENSP00000348089.5:p.His1317Tyr
ENST00000465653.1:n.271C>T
ENST00000623073.3:c.*2245C>T ENSP00000485650.1:n.*2245C>T
ENST00000623115.3:c.2059C>T ENSP00000485321.1:p.His687Tyr
ENST00000624341.3:c.1781C>T
NM_000124.3:c.3949C>T NP_000115.1:p.His1317Tyr
XR_945953.1:n.243-10179G>A
NM_001346440.1:c.3949C>T NP_001333369.1:p.His1317Tyr
NM_000124.4:c.3949C>T MANE Select NP_000115.1:p.His1317Tyr
NM_001346440.2:c.3949C>T NP_001333369.1:p.His1317Tyr