Canonical Allele Identifier: CA5495877
Gene: ERCC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.49493178G>A
GRCh37 chr10:g.50701224G>A
Revel Score:
ENST00000355832 (MANE Select) 0.511
gnomAD v2:
10:50701224 G / A
gnomAD v3:
10:49493178 G / A
gnomAD v4:
chr10-49493178-G-A
Joint Max Group AF 0.00270542 (SAS)
Genomes Max Group AF 0.0009747 (SAS)
Exomes Max Group AF 0.0027571 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49493178G>A , CM000672.2:g.49493178G>A GRCh38
NC_000010.10:g.50701224G>A , CM000672.1:g.50701224G>A GRCh37
NC_000010.9:g.50371230G>A NCBI36
NG_009442.1:g.50924C>T , LRG_465:g.50924C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1760C>T MANE Select ENSP00000348089.5:p.Thr587Met
ENST00000681632.1:n.1838C>T
ENST00000681659.1:c.1601C>T ENSP00000505631.1:p.Thr534Met
ENST00000355832.9:c.1760C>T ENSP00000348089.5:p.Thr587Met
ENST00000475116.1:n.275+7360C>T
ENST00000623073.3:c.161C>T ENSP00000485650.1:p.Thr54Met
ENST00000623115.3:c.-70+7360C>T ENSP00000485321.1:n.-70+7360C>T
ENST00000623318.1:c.161C>T ENSP00000485423.1:p.Thr54Met
NM_000124.3:c.1760C>T NP_000115.1:p.Thr587Met
NM_001346440.1:c.1760C>T NP_001333369.1:p.Thr587Met
NM_000124.4:c.1760C>T MANE Select NP_000115.1:p.Thr587Met
NM_001346440.2:c.1760C>T NP_001333369.1:p.Thr587Met
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