Canonical Allele Identifier: CA199597
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49470676G>C
GRCh37 chr10:g.50678722G>C
Revel Score:
ENST00000355832 (MANE Select) 0.100
ENST00000374129 0.100
ENST00000542458 0.100
gnomAD v2:
10:50678722 G / C
gnomAD v3:
10:49470676 G / C
gnomAD v4:
chr10-49470676-G-C
Joint Max Group AF 0.04245043 (AFR)
Genomes Max Group AF 0.03970829 (AFR)
Exomes Max Group AF 0.04470575 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49470676G>C , CM000672.2:g.49470676G>C GRCh38
NC_000010.10:g.50678722G>C , CM000672.1:g.50678722G>C GRCh37
NC_000010.9:g.50348728G>C NCBI36
NG_009442.1:g.73426C>G , LRG_465:g.73426C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3284C>G MANE Select ENSP00000348089.5:p.Pro1095Arg
ENST00000679552.1:n.355C>G
ENST00000679871.1:n.430C>G
ENST00000679974.1:n.333C>G
ENST00000681632.1:n.4687C>G
ENST00000681659.1:c.3125C>G ENSP00000505631.1:p.Pro1042Arg
ENST00000355832.9:c.3284C>G ENSP00000348089.5:p.Pro1095Arg
ENST00000623073.3:c.*1580C>G ENSP00000485650.1:n.*1580C>G
ENST00000623115.3:c.1394C>G ENSP00000485321.1:p.Pro465Arg
ENST00000624341.3:c.1116C>G
NM_000124.3:c.3284C>G NP_000115.1:p.Pro1095Arg
XR_945953.1:n.243-889G>C
NM_001346440.1:c.3284C>G NP_001333369.1:p.Pro1095Arg
NM_000124.4:c.3284C>G MANE Select NP_000115.1:p.Pro1095Arg
NM_001346440.2:c.3284C>G NP_001333369.1:p.Pro1095Arg
Search 100 bp 5'
Search 100 bp 3'