Canonical Allele Identifier: CA376724119

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482686C>T , CM000672.2:g.49482686C>T	GRCh38
NC_000010.10:g.50690732C>T , CM000672.1:g.50690732C>T	GRCh37
NC_000010.9:g.50360738C>T	NCBI36
NG_009442.1:g.61416G>A , LRG_465:g.61416G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.2169+1G>A MANE Select	NP_000115.1:n.2169+1G>A
ENST00000355832.10:c.2169+1G>A MANE Select	ENSP00000348089.5:n.2169+1G>A
NM_000124.3:c.2169+1G>A	NP_000115.1:n.2169+1G>A
NM_001346440.1:c.2169+1G>A	NP_001333369.1:n.2169+1G>A
NM_001346440.2:c.2169+1G>A	NP_001333369.1:n.2169+1G>A
ENST00000355832.9:c.2169+1G>A	ENSP00000348089.5:n.2169+1G>A
ENST00000623073.3:c.*561+1G>A	ENSP00000485650.1:n.*561+1G>A
ENST00000623115.3:c.279+1G>A	ENSP00000485321.1:n.279+1G>A
ENST00000681632.1:n.2247+1G>A
ENST00000681659.1:c.2010+1G>A	ENSP00000505631.1:n.2010+1G>A