Canonical Allele Identifier: CA469604022
Gene: ERCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.50690808G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482762G>C , CM000672.2:g.49482762G>C GRCh38
NC_000010.10:g.50690808G>C , CM000672.1:g.50690808G>C GRCh37
NC_000010.9:g.50360814G>C NCBI36
NG_009442.1:g.61340C>G , LRG_465:g.61340C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.2094C>G MANE Select ENSP00000348089.5:p.Gly698=
ENST00000681632.1:n.2172C>G
ENST00000681659.1:c.1935C>G ENSP00000505631.1:p.Gly645=
ENST00000355832.9:c.2094C>G ENSP00000348089.5:p.Gly698=
ENST00000623073.3:c.*486C>G ENSP00000485650.1:n.*486C>G
ENST00000623115.3:c.204C>G ENSP00000485321.1:p.Gly68=
NM_000124.3:c.2094C>G NP_000115.1:p.Gly698=
NM_001346440.1:c.2094C>G NP_001333369.1:p.Gly698=
NM_000124.4:c.2094C>G MANE Select NP_000115.1:p.Gly698=
NM_001346440.2:c.2094C>G NP_001333369.1:p.Gly698=
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