Canonical Allele Identifier: CA5495252

Gene: ERCC6

Linked Data

• dbSNP Id: rs763644445
• ExAC: 10:50669534 C / T
• gnomAD v4: 10-49461488-C-T
• MyVariant Identifiers: chr10:g.50669534C>T (hg19) ; chr10:g.49461488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461488C>T , CM000672.2:g.49461488C>T	GRCh38
NC_000010.10:g.50669534C>T , CM000672.1:g.50669534C>T	GRCh37
NC_000010.9:g.50339540C>T	NCBI36
NG_009442.1:g.82614G>A , LRG_465:g.82614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3847G>A MANE Select	ENSP00000348089.5:p.Glu1283Lys
ENST00000679552.1:n.918G>A
ENST00000679871.1:n.993G>A
ENST00000679974.1:n.896G>A
ENST00000681632.1:n.5250G>A
ENST00000681659.1:c.3688G>A	ENSP00000505631.1:p.Glu1230Lys
ENST00000355832.9:c.3847G>A	ENSP00000348089.5:p.Glu1283Lys
ENST00000465653.1:n.169G>A
ENST00000623073.3:c.*2143G>A	ENSP00000485650.1:n.*2143G>A
ENST00000623115.3:c.1957G>A	ENSP00000485321.1:p.Glu653Lys
ENST00000624341.3:c.1679G>A
NM_000124.3:c.3847G>A	NP_000115.1:p.Glu1283Lys
XR_945953.1:n.243-10077C>T
NM_001346440.1:c.3847G>A	NP_001333369.1:p.Glu1283Lys
NM_000124.4:c.3847G>A MANE Select	NP_000115.1:p.Glu1283Lys
NM_001346440.2:c.3847G>A	NP_001333369.1:p.Glu1283Lys