Canonical Allele Identifier: CA376717102

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470863T>A , CM000672.2:g.49470863T>A	GRCh38
NC_000010.10:g.50678909T>A , CM000672.1:g.50678909T>A	GRCh37
NC_000010.9:g.50348915T>A	NCBI36
NG_009442.1:g.73239A>T , LRG_465:g.73239A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3097A>T MANE Select	NP_000115.1:p.Lys1033Ter
ENST00000355832.10:c.3097A>T MANE Select	ENSP00000348089.5:p.Lys1033Ter
NM_000124.3:c.3097A>T	NP_000115.1:p.Lys1033Ter
NM_001346440.1:c.3097A>T	NP_001333369.1:p.Lys1033Ter
NM_001346440.2:c.3097A>T	NP_001333369.1:p.Lys1033Ter
ENST00000355832.9:c.3097A>T	ENSP00000348089.5:p.Lys1033Ter
ENST00000623073.3:c.*1393A>T	ENSP00000485650.1:n.*1393A>T
ENST00000623115.3:c.1207A>T	ENSP00000485321.1:p.Lys403Ter
ENST00000624341.3:c.929A>T
ENST00000679552.1:n.168A>T
ENST00000679871.1:n.243A>T
ENST00000679974.1:n.146A>T
ENST00000681632.1:n.4500A>T
ENST00000681659.1:c.2938A>T	ENSP00000505631.1:p.Lys980Ter
XR_945953.1:n.243-702T>A