Canonical Allele Identifier: CA376708314

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50669456A>T (hg19) ; chr10:g.49461410A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461410A>T , CM000672.2:g.49461410A>T	GRCh38
NC_000010.10:g.50669456A>T , CM000672.1:g.50669456A>T	GRCh37
NC_000010.9:g.50339462A>T	NCBI36
NG_009442.1:g.82692T>A , LRG_465:g.82692T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3925T>A MANE Select	ENSP00000348089.5:p.Ser1309Thr
ENST00000679552.1:n.996T>A
ENST00000679871.1:n.1071T>A
ENST00000679974.1:n.974T>A
ENST00000681632.1:n.5328T>A
ENST00000681659.1:c.3766T>A	ENSP00000505631.1:p.Ser1256Thr
ENST00000355832.9:c.3925T>A	ENSP00000348089.5:p.Ser1309Thr
ENST00000465653.1:n.247T>A
ENST00000623073.3:c.*2221T>A	ENSP00000485650.1:n.*2221T>A
ENST00000623115.3:c.2035T>A	ENSP00000485321.1:p.Ser679Thr
ENST00000624341.3:c.1757T>A
NM_000124.3:c.3925T>A	NP_000115.1:p.Ser1309Thr
XR_945953.1:n.243-10155A>T
NM_001346440.1:c.3925T>A	NP_001333369.1:p.Ser1309Thr
NM_000124.4:c.3925T>A MANE Select	NP_000115.1:p.Ser1309Thr
NM_001346440.2:c.3925T>A	NP_001333369.1:p.Ser1309Thr