Canonical Allele Identifier: CA376724276
Gene: ERCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.50690804A>C (hg19) chr10:g.49482758A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482758A>C , CM000672.2:g.49482758A>C GRCh38
NC_000010.10:g.50690804A>C , CM000672.1:g.50690804A>C GRCh37
NC_000010.9:g.50360810A>C NCBI36
NG_009442.1:g.61344T>G , LRG_465:g.61344T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2098T>G MANE Select ENSP00000348089.5:p.Leu700Val
ENST00000681632.1:n.2176T>G
ENST00000681659.1:c.1939T>G ENSP00000505631.1:p.Leu647Val
ENST00000355832.9:c.2098T>G ENSP00000348089.5:p.Leu700Val
ENST00000623073.3:c.*490T>G ENSP00000485650.1:n.*490T>G
ENST00000623115.3:c.208T>G ENSP00000485321.1:p.Leu70Val
NM_000124.3:c.2098T>G NP_000115.1:p.Leu700Val
NM_001346440.1:c.2098T>G NP_001333369.1:p.Leu700Val
NM_000124.4:c.2098T>G MANE Select NP_000115.1:p.Leu700Val
NM_001346440.2:c.2098T>G NP_001333369.1:p.Leu700Val
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