Canonical Allele Identifier: CA376717688
Gene: ERCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49471060A>T , CM000672.2:g.49471060A>T GRCh38
NC_000010.10:g.50679106A>T , CM000672.1:g.50679106A>T GRCh37
NC_000010.9:g.50349112A>T NCBI36
NG_009442.1:g.73042T>A , LRG_465:g.73042T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2985T>A MANE Select ENSP00000348089.5:p.Phe995Leu
ENST00000679552.1:n.142-171T>A
ENST00000679871.1:n.131T>A
ENST00000679974.1:n.120-171T>A
ENST00000681632.1:n.4388T>A
ENST00000681659.1:c.2826T>A ENSP00000505631.1:p.Phe942Leu
ENST00000355832.9:c.2985T>A ENSP00000348089.5:p.Phe995Leu
ENST00000623073.3:c.*1281T>A ENSP00000485650.1:n.*1281T>A
ENST00000623115.3:c.1095T>A ENSP00000485321.1:p.Phe365Leu
ENST00000624341.3:c.817T>A
NM_000124.3:c.2985T>A NP_000115.1:p.Phe995Leu
XR_945953.1:n.243-505A>T
NM_001346440.1:c.2985T>A NP_001333369.1:p.Phe995Leu
NM_000124.4:c.2985T>A MANE Select NP_000115.1:p.Phe995Leu
NM_001346440.2:c.2985T>A NP_001333369.1:p.Phe995Leu