Canonical Allele Identifier: CA5495699
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49476314C>T
GRCh37 chr10:g.50684360C>T
gnomAD v2:
10:50684360 C / T
gnomAD v3:
10:49476314 C / T
gnomAD v4:
chr10-49476314-C-T
Joint Max Group AF 0.00016418 (SAS)
Genomes Max Group AF 0.0001707 (SAS)
Exomes Max Group AF 0.00014482 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49476314C>T , CM000672.2:g.49476314C>T GRCh38
NC_000010.10:g.50684360C>T , CM000672.1:g.50684360C>T GRCh37
NC_000010.9:g.50354366C>T NCBI36
NG_009442.1:g.67788G>A , LRG_465:g.67788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.2287-4G>A MANE Select ENSP00000348089.5:n.2287-4G>A
ENST00000681632.1:n.2365-4G>A
ENST00000681659.1:c.2128-4G>A ENSP00000505631.1:n.2128-4G>A
ENST00000355832.9:c.2287-4G>A ENSP00000348089.5:n.2287-4G>A
ENST00000623073.3:c.*678+2040G>A ENSP00000485650.1:n.*678+2040G>A
ENST00000623115.3:c.397-4G>A ENSP00000485321.1:n.397-4G>A
NM_000124.3:c.2287-4G>A NP_000115.1:n.2287-4G>A
NM_001346440.1:c.2287-4G>A NP_001333369.1:n.2287-4G>A
NM_000124.4:c.2287-4G>A MANE Select NP_000115.1:n.2287-4G>A
NM_001346440.2:c.2287-4G>A NP_001333369.1:n.2287-4G>A
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