Canonical Allele Identifier: CA376724281

Gene: ERCC6

Linked Data

• dbSNP Id: rs1590417517
• MyVariant Identifiers: chr10:g.50690807T>C (hg19) ; chr10:g.49482761T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482761T>C , CM000672.2:g.49482761T>C	GRCh38
NC_000010.10:g.50690807T>C , CM000672.1:g.50690807T>C	GRCh37
NC_000010.9:g.50360813T>C	NCBI36
NG_009442.1:g.61341A>G , LRG_465:g.61341A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2095A>G MANE Select	ENSP00000348089.5:p.Thr699Ala
ENST00000681632.1:n.2173A>G
ENST00000681659.1:c.1936A>G	ENSP00000505631.1:p.Thr646Ala
ENST00000355832.9:c.2095A>G	ENSP00000348089.5:p.Thr699Ala
ENST00000623073.3:c.*487A>G	ENSP00000485650.1:n.*487A>G
ENST00000623115.3:c.205A>G	ENSP00000485321.1:p.Thr69Ala
NM_000124.3:c.2095A>G	NP_000115.1:p.Thr699Ala
NM_001346440.1:c.2095A>G	NP_001333369.1:p.Thr699Ala
NM_000124.4:c.2095A>G MANE Select	NP_000115.1:p.Thr699Ala
NM_001346440.2:c.2095A>G	NP_001333369.1:p.Thr699Ala