Canonical Allele Identifier: CA5495972
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49505975G>A
GRCh37 chr10:g.50714021G>A
Revel Score:
ENST00000355832 (MANE Select) 0.159
gnomAD v2:
10:50714021 G / A
gnomAD v3:
10:49505975 G / A
gnomAD v4:
chr10-49505975-G-A
Joint Max Group AF 0.00063739 (AFR)
Genomes Max Group AF 0.00068457 (AFR)
Exomes Max Group AF 0.0005653 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49505975G>A , CM000672.2:g.49505975G>A GRCh38
NC_000010.10:g.50714021G>A , CM000672.1:g.50714021G>A GRCh37
NC_000010.9:g.50384027G>A NCBI36
NG_009442.1:g.38127C>T , LRG_465:g.38127C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1435C>T MANE Select ENSP00000348089.5:p.Arg479Cys
ENST00000679811.1:n.1518C>T
ENST00000681632.1:n.1513C>T
ENST00000681659.1:c.1435C>T ENSP00000505631.1:p.Arg479Cys
ENST00000355832.9:c.1435C>T ENSP00000348089.5:p.Arg479Cys
ENST00000475116.1:n.25C>T
ENST00000623073.3:c.-5352C>T ENSP00000485650.1:n.-5352C>T
ENST00000623788.1:n.434C>T
NM_000124.3:c.1435C>T NP_000115.1:p.Arg479Cys
NM_001346440.1:c.1435C>T NP_001333369.1:p.Arg479Cys
NM_000124.4:c.1435C>T MANE Select NP_000115.1:p.Arg479Cys
NM_001346440.2:c.1435C>T NP_001333369.1:p.Arg479Cys
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