Canonical Allele Identifier: CA274690
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49505883C>A
GRCh37 chr10:g.50713929C>A
gnomAD v2:
10:50713929 C / A
gnomAD v3:
10:49505883 C / A
gnomAD v4:
chr10-49505883-C-A
Joint Max Group AF 0.00001534 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001378 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49505883C>A , CM000672.2:g.49505883C>A GRCh38
NC_000010.10:g.50713929C>A , CM000672.1:g.50713929C>A GRCh37
NC_000010.9:g.50383935C>A NCBI36
NG_009442.1:g.38219G>T , LRG_465:g.38219G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1526+1G>T MANE Select ENSP00000348089.5:n.1526+1G>T
ENST00000679811.1:n.1610G>T
ENST00000681632.1:n.1604+1G>T
ENST00000681659.1:c.1526+1G>T ENSP00000505631.1:n.1526+1G>T
ENST00000355832.9:c.1526+1G>T ENSP00000348089.5:n.1526+1G>T
ENST00000475116.1:n.116+1G>T
ENST00000623073.3:c.-5260G>T ENSP00000485650.1:n.-5260G>T
ENST00000623788.1:n.525+1G>T
NM_000124.3:c.1526+1G>T NP_000115.1:n.1526+1G>T
NM_001346440.1:c.1526+1G>T NP_001333369.1:n.1526+1G>T
NM_000124.4:c.1526+1G>T MANE Select NP_000115.1:n.1526+1G>T
NM_001346440.2:c.1526+1G>T NP_001333369.1:n.1526+1G>T
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