Canonical Allele Identifier: CA469789262

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679043A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470997A>C , CM000672.2:g.49470997A>C	GRCh38
NC_000010.10:g.50679043A>C , CM000672.1:g.50679043A>C	GRCh37
NC_000010.9:g.50349049A>C	NCBI36
NG_009442.1:g.73105T>G , LRG_465:g.73105T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3048T>G MANE Select	ENSP00000348089.5:p.Thr1016=
ENST00000679552.1:n.142-108T>G
ENST00000679871.1:n.194T>G
ENST00000679974.1:n.120-108T>G
ENST00000681632.1:n.4451T>G
ENST00000681659.1:c.2889T>G	ENSP00000505631.1:p.Thr963=
ENST00000355832.9:c.3048T>G	ENSP00000348089.5:p.Thr1016=
ENST00000623073.3:c.*1344T>G	ENSP00000485650.1:n.*1344T>G
ENST00000623115.3:c.1158T>G	ENSP00000485321.1:p.Thr386=
ENST00000624341.3:c.880T>G
NM_000124.3:c.3048T>G	NP_000115.1:p.Thr1016=
XR_945953.1:n.243-568A>C
NM_001346440.1:c.3048T>G	NP_001333369.1:p.Thr1016=
NM_000124.4:c.3048T>G MANE Select	NP_000115.1:p.Thr1016=
NM_001346440.2:c.3048T>G	NP_001333369.1:p.Thr1016=