Canonical Allele Identifier: CA5495377
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49470676G>A
GRCh37 chr10:g.50678722G>A
Revel Score:
ENST00000355832 (MANE Select) 0.073
ENST00000374129 0.073
ENST00000542458 0.073
gnomAD v2:
10:50678722 G / A
gnomAD v3:
10:49470676 G / A
gnomAD v4:
chr10-49470676-G-A
Joint Max Group AF 0.00020579 (EAS)
Genomes Max Group AF 0.00015673 (EAS)
Exomes Max Group AF 0.00017348 (EAS)
ClinVar RCV:
RCV002644095
ClinVar Variation:
2200301
dbSNP:
4253208
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.3284C>T MANE Select ENSP00000348089.5:p.Pro1095Leu
ENST00000679552.1:n.355C>T
ENST00000679871.1:n.430C>T
ENST00000679974.1:n.333C>T
ENST00000681632.1:n.4687C>T
ENST00000681659.1:c.3125C>T ENSP00000505631.1:p.Pro1042Leu
ENST00000355832.9:c.3284C>T ENSP00000348089.5:p.Pro1095Leu
ENST00000623073.3:c.*1580C>T ENSP00000485650.1:n.*1580C>T
ENST00000623115.3:c.1394C>T ENSP00000485321.1:p.Pro465Leu
ENST00000624341.3:c.1116C>T
NM_000124.3:c.3284C>T NP_000115.1:p.Pro1095Leu
XR_945953.1:n.243-889G>A
NM_001346440.1:c.3284C>T NP_001333369.1:p.Pro1095Leu
NM_000124.4:c.3284C>T MANE Select NP_000115.1:p.Pro1095Leu
NM_001346440.2:c.3284C>T NP_001333369.1:p.Pro1095Leu
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