Canonical Allele Identifier: CA2580598385
Gene: ERCC6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49514779T>C , CM000672.2:g.49514779T>C GRCh38
NC_000010.10:g.50722825T>C , CM000672.1:g.50722825T>C GRCh37
NC_000010.9:g.50392831T>C NCBI36
NG_009442.1:g.29323A>G , LRG_465:g.29323A>G
NG_033155.1:g.14503A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.1398-8767A>G MANE Select ENSP00000348089.5:n.1398-8767A>G
ENST00000679811.1:n.1481-8767A>G
ENST00000680107.1:c.*2320A>G ENSP00000505909.1:n.*2320A>G
ENST00000681632.1:n.1476-8767A>G
ENST00000681659.1:c.1398-8767A>G ENSP00000505631.1:n.1398-8767A>G
ENST00000355832.9:c.1398-8767A>G ENSP00000348089.5:n.1398-8767A>G
NM_000124.3:c.1398-8767A>G NP_000115.1:n.1398-8767A>G
NM_001346440.1:c.1398-8767A>G NP_001333369.1:n.1398-8767A>G
NM_000124.4:c.1398-8767A>G MANE Select NP_000115.1:n.1398-8767A>G
NM_001346440.2:c.1398-8767A>G NP_001333369.1:n.1398-8767A>G
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