Canonical Allele Identifier: CA376726387
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 555221
dbSNP Id: rs1228919836

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493116C>T , CM000672.2:g.49493116C>T GRCh38
NC_000010.10:g.50701162C>T , CM000672.1:g.50701162C>T GRCh37
NC_000010.9:g.50371168C>T NCBI36
NG_009442.1:g.50986G>A , LRG_465:g.50986G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1821+1G>A MANE Select ENSP00000348089.5:n.1821+1G>A
ENST00000681632.1:n.1899+1G>A
ENST00000681659.1:c.1662+1G>A ENSP00000505631.1:n.1662+1G>A
ENST00000355832.9:c.1821+1G>A ENSP00000348089.5:n.1821+1G>A
ENST00000475116.1:n.275+7422G>A
ENST00000623073.3:c.222+1G>A ENSP00000485650.1:n.222+1G>A
ENST00000623115.3:c.-70+7422G>A ENSP00000485321.1:n.-70+7422G>A
ENST00000623318.1:c.222+1G>A ENSP00000485423.1:n.222+1G>A
NM_000124.3:c.1821+1G>A NP_000115.1:n.1821+1G>A
NM_001346440.1:c.1821+1G>A NP_001333369.1:n.1821+1G>A
NM_000124.4:c.1821+1G>A MANE Select NP_000115.1:n.1821+1G>A
NM_001346440.2:c.1821+1G>A NP_001333369.1:n.1821+1G>A