Canonical Allele Identifier: CA5495348
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 300049
ClinVar RCV Id: RCV000275930 RCV000311187 RCV000368077 RCV000871317
dbSNP Id: rs148366188
ExAC: 10:50678550 A / C
gnomAD v2: 10-50678550-A-C
gnomAD v3: 10-49470504-A-C
gnomAD v4: 10-49470504-A-C
MyVariant Identifiers: chr10:g.50678550A>C (hg19) chr10:g.49470504A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470504A>C , CM000672.2:g.49470504A>C GRCh38
NC_000010.10:g.50678550A>C , CM000672.1:g.50678550A>C GRCh37
NC_000010.9:g.50348556A>C NCBI36
NG_009442.1:g.73598T>G , LRG_465:g.73598T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3456T>G MANE Select ENSP00000348089.5:p.Gly1152=
ENST00000679552.1:n.527T>G
ENST00000679871.1:n.602T>G
ENST00000679974.1:n.505T>G
ENST00000681632.1:n.4859T>G
ENST00000681659.1:c.3297T>G ENSP00000505631.1:p.Gly1099=
ENST00000355832.9:c.3456T>G ENSP00000348089.5:p.Gly1152=
ENST00000623073.3:c.*1752T>G ENSP00000485650.1:n.*1752T>G
ENST00000623115.3:c.1566T>G ENSP00000485321.1:p.Gly522=
ENST00000624341.3:c.1288T>G
NM_000124.3:c.3456T>G NP_000115.1:p.Gly1152=
XR_945953.1:n.243-1061A>C
NM_001346440.1:c.3456T>G NP_001333369.1:p.Gly1152=
NM_000124.4:c.3456T>G MANE Select NP_000115.1:p.Gly1152=
NM_001346440.2:c.3456T>G NP_001333369.1:p.Gly1152=
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