Canonical Allele Identifier: CA2609134988
Gene: ERCC6 HGNC NCBI

Linked Data

gnomAD v4: 10-49493008-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493008A>G , CM000672.2:g.49493008A>G GRCh38
NC_000010.10:g.50701054A>G , CM000672.1:g.50701054A>G GRCh37
NC_000010.9:g.50371060A>G NCBI36
NG_009442.1:g.51094T>C , LRG_465:g.51094T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1821+109T>C MANE Select ENSP00000348089.5:n.1821+109T>C
ENST00000681632.1:n.1899+109T>C
ENST00000681659.1:c.1662+109T>C ENSP00000505631.1:n.1662+109T>C
ENST00000355832.9:c.1821+109T>C ENSP00000348089.5:n.1821+109T>C
ENST00000475116.1:n.275+7530T>C
ENST00000623073.3:c.222+109T>C ENSP00000485650.1:n.222+109T>C
ENST00000623115.3:c.-70+7530T>C ENSP00000485321.1:n.-70+7530T>C
ENST00000623318.1:c.222+109T>C ENSP00000485423.1:n.222+109T>C
NM_000124.3:c.1821+109T>C NP_000115.1:n.1821+109T>C
NM_001346440.1:c.1821+109T>C NP_001333369.1:n.1821+109T>C
NM_000124.4:c.1821+109T>C MANE Select NP_000115.1:n.1821+109T>C
NM_001346440.2:c.1821+109T>C NP_001333369.1:n.1821+109T>C
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