Canonical Allele Identifier: CA376726390
Gene: ERCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493118T>G , CM000672.2:g.49493118T>G GRCh38
NC_000010.10:g.50701164T>G , CM000672.1:g.50701164T>G GRCh37
NC_000010.9:g.50371170T>G NCBI36
NG_009442.1:g.50984A>C , LRG_465:g.50984A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1820A>C MANE Select ENSP00000348089.5:p.Lys607Thr
ENST00000681632.1:n.1898A>C
ENST00000681659.1:c.1661A>C ENSP00000505631.1:p.Lys554Thr
ENST00000355832.9:c.1820A>C ENSP00000348089.5:p.Lys607Thr
ENST00000475116.1:n.275+7420A>C
ENST00000623073.3:c.221A>C ENSP00000485650.1:p.Lys74Thr
ENST00000623115.3:c.-70+7420A>C ENSP00000485321.1:n.-70+7420A>C
ENST00000623318.1:c.221A>C ENSP00000485423.1:p.Lys74Thr
NM_000124.3:c.1820A>C NP_000115.1:p.Lys607Thr
NM_001346440.1:c.1820A>C NP_001333369.1:p.Lys607Thr
NM_000124.4:c.1820A>C MANE Select NP_000115.1:p.Lys607Thr
NM_001346440.2:c.1820A>C NP_001333369.1:p.Lys607Thr