Canonical Allele Identifier: CA115159
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49482809G>A
GRCh37 chr10:g.50690855G>A
gnomAD v2:
10:50690855 G / A
gnomAD v3:
10:49482809 G / A
gnomAD v4:
chr10-49482809-G-A
Joint Max Group AF 0.00004346 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00004351 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49482809G>A , CM000672.2:g.49482809G>A GRCh38
NC_000010.10:g.50690855G>A , CM000672.1:g.50690855G>A GRCh37
NC_000010.9:g.50360861G>A NCBI36
NG_009442.1:g.61293C>T , LRG_465:g.61293C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2047C>T MANE Select ENSP00000348089.5:p.Arg683Ter
ENST00000681632.1:n.2125C>T
ENST00000681659.1:c.1888C>T ENSP00000505631.1:p.Arg630Ter
ENST00000355832.9:c.2047C>T ENSP00000348089.5:p.Arg683Ter
ENST00000623073.3:c.*439C>T ENSP00000485650.1:n.*439C>T
ENST00000623115.3:c.157C>T ENSP00000485321.1:p.Arg53Ter
NM_000124.3:c.2047C>T NP_000115.1:p.Arg683Ter
NM_001346440.1:c.2047C>T NP_001333369.1:p.Arg683Ter
NM_000124.4:c.2047C>T MANE Select NP_000115.1:p.Arg683Ter
NM_001346440.2:c.2047C>T NP_001333369.1:p.Arg683Ter
Search 100 bp 5'
Search 100 bp 3'