Canonical Allele Identifier: CA376717435

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679054A>T (hg19) ; chr10:g.49471008A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471008A>T , CM000672.2:g.49471008A>T	GRCh38
NC_000010.10:g.50679054A>T , CM000672.1:g.50679054A>T	GRCh37
NC_000010.9:g.50349060A>T	NCBI36
NG_009442.1:g.73094T>A , LRG_465:g.73094T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3037T>A MANE Select	ENSP00000348089.5:p.Ser1013Thr
ENST00000679552.1:n.142-119T>A
ENST00000679871.1:n.183T>A
ENST00000679974.1:n.120-119T>A
ENST00000681632.1:n.4440T>A
ENST00000681659.1:c.2878T>A	ENSP00000505631.1:p.Ser960Thr
ENST00000355832.9:c.3037T>A	ENSP00000348089.5:p.Ser1013Thr
ENST00000623073.3:c.*1333T>A	ENSP00000485650.1:n.*1333T>A
ENST00000623115.3:c.1147T>A	ENSP00000485321.1:p.Ser383Thr
ENST00000624341.3:c.869T>A
NM_000124.3:c.3037T>A	NP_000115.1:p.Ser1013Thr
XR_945953.1:n.243-557A>T
NM_001346440.1:c.3037T>A	NP_001333369.1:p.Ser1013Thr
NM_000124.4:c.3037T>A MANE Select	NP_000115.1:p.Ser1013Thr
NM_001346440.2:c.3037T>A	NP_001333369.1:p.Ser1013Thr