Canonical Allele Identifier: CA376754437

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50732632A>T (hg19) ; chr10:g.49524586A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524586A>T , CM000672.2:g.49524586A>T	GRCh38
NC_000010.10:g.50732632A>T , CM000672.1:g.50732632A>T	GRCh37
NC_000010.9:g.50402638A>T	NCBI36
NG_009442.1:g.19516T>A , LRG_465:g.19516T>A
NG_033155.1:g.4696T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.844T>A MANE Select	ENSP00000348089.5:p.Ser282Thr
ENST00000447839.7:c.844T>A MANE Plus Clinical	ENSP00000387966.2:p.Ser282Thr
ENST00000679596.1:c.*473T>A	ENSP00000504862.1:n.*473T>A
ENST00000679811.1:n.927T>A
ENST00000680107.1:c.652+3831T>A	ENSP00000505909.1:n.652+3831T>A
ENST00000680233.1:n.937T>A
ENST00000681632.1:n.922T>A
ENST00000681659.1:c.844T>A	ENSP00000505631.1:p.Ser282Thr
ENST00000355832.9:c.844T>A	ENSP00000348089.5:p.Ser282Thr
ENST00000447839.6:c.844T>A	ENSP00000387966.2:p.Ser282Thr
ENST00000515869.1:c.844T>A	ENSP00000423550.1:p.Ser282Thr
NM_000124.3:c.844T>A	NP_000115.1:p.Ser282Thr
NM_001277058.1:c.844T>A	NP_001263987.1:p.Ser282Thr
NM_001277059.1:c.844T>A	NP_001263988.1:p.Ser282Thr
NM_001346440.1:c.844T>A	NP_001333369.1:p.Ser282Thr
NM_000124.4:c.844T>A MANE Select	NP_000115.1:p.Ser282Thr
NM_001277058.2:c.844T>A MANE Plus Clinical	NP_001263987.1:p.Ser282Thr
NM_001277059.2:c.844T>A	NP_001263988.1:p.Ser282Thr
NM_001346440.2:c.844T>A	NP_001333369.1:p.Ser282Thr