Canonical Allele Identifier: CA5495811
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49483339G>A
GRCh37 chr10:g.50691385G>A
gnomAD v2:
10:50691385 G / A
gnomAD v3:
10:49483339 G / A
gnomAD v4:
chr10-49483339-G-A
Joint Max Group AF 0.00167614 (AFR)
Genomes Max Group AF 0.00141101 (AFR)
Exomes Max Group AF 0.00177788 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49483339G>A , CM000672.2:g.49483339G>A GRCh38
NC_000010.10:g.50691385G>A , CM000672.1:g.50691385G>A GRCh37
NC_000010.9:g.50361391G>A NCBI36
NG_009442.1:g.60763C>T , LRG_465:g.60763C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1992+7C>T MANE Select ENSP00000348089.5:n.1992+7C>T
ENST00000681632.1:n.2070+7C>T
ENST00000681659.1:c.1833+7C>T ENSP00000505631.1:n.1833+7C>T
ENST00000355832.9:c.1992+7C>T ENSP00000348089.5:n.1992+7C>T
ENST00000623073.3:c.*384+7C>T ENSP00000485650.1:n.*384+7C>T
ENST00000623115.3:c.102+7C>T ENSP00000485321.1:n.102+7C>T
NM_000124.3:c.1992+7C>T NP_000115.1:n.1992+7C>T
NM_001346440.1:c.1992+7C>T NP_001333369.1:n.1992+7C>T
NM_000124.4:c.1992+7C>T MANE Select NP_000115.1:n.1992+7C>T
NM_001346440.2:c.1992+7C>T NP_001333369.1:n.1992+7C>T
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