Canonical Allele Identifier: CA5495775
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2870469
ClinVar RCV Id: RCV003703283
dbSNP Id: rs764824370
ExAC: 10:50690826 G / A
gnomAD v2: 10-50690826-G-A
gnomAD v4: 10-49482780-G-A
MyVariant Identifiers: chr10:g.50690826G>A (hg19) chr10:g.49482780G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482780G>A , CM000672.2:g.49482780G>A GRCh38
NC_000010.10:g.50690826G>A , CM000672.1:g.50690826G>A GRCh37
NC_000010.9:g.50360832G>A NCBI36
NG_009442.1:g.61322C>T , LRG_465:g.61322C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2076C>T MANE Select ENSP00000348089.5:p.Ile692=
ENST00000681632.1:n.2154C>T
ENST00000681659.1:c.1917C>T ENSP00000505631.1:p.Ile639=
ENST00000355832.9:c.2076C>T ENSP00000348089.5:p.Ile692=
ENST00000623073.3:c.*468C>T ENSP00000485650.1:n.*468C>T
ENST00000623115.3:c.186C>T ENSP00000485321.1:p.Ile62=
NM_000124.3:c.2076C>T NP_000115.1:p.Ile692=
NM_001346440.1:c.2076C>T NP_001333369.1:p.Ile692=
NM_000124.4:c.2076C>T MANE Select NP_000115.1:p.Ile692=
NM_001346440.2:c.2076C>T NP_001333369.1:p.Ile692=
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