Canonical Allele Identifier: CA469604023
Gene: ERCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.50690811T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482765T>C , CM000672.2:g.49482765T>C GRCh38
NC_000010.10:g.50690811T>C , CM000672.1:g.50690811T>C GRCh37
NC_000010.9:g.50360817T>C NCBI36
NG_009442.1:g.61337A>G , LRG_465:g.61337A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355832.10:c.2091A>G MANE Select ENSP00000348089.5:p.Leu697=
ENST00000681632.1:n.2169A>G
ENST00000681659.1:c.1932A>G ENSP00000505631.1:p.Leu644=
ENST00000355832.9:c.2091A>G ENSP00000348089.5:p.Leu697=
ENST00000623073.3:c.*483A>G ENSP00000485650.1:n.*483A>G
ENST00000623115.3:c.201A>G ENSP00000485321.1:p.Leu67=
NM_000124.3:c.2091A>G NP_000115.1:p.Leu697=
NM_001346440.1:c.2091A>G NP_001333369.1:p.Leu697=
NM_000124.4:c.2091A>G MANE Select NP_000115.1:p.Leu697=
NM_001346440.2:c.2091A>G NP_001333369.1:p.Leu697=
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