Canonical Allele Identifier: CA469788913

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678514T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470468T>C , CM000672.2:g.49470468T>C	GRCh38
NC_000010.10:g.50678514T>C , CM000672.1:g.50678514T>C	GRCh37
NC_000010.9:g.50348520T>C	NCBI36
NG_009442.1:g.73634A>G , LRG_465:g.73634A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3492A>G MANE Select	ENSP00000348089.5:p.Gln1164=
ENST00000679552.1:n.563A>G
ENST00000679871.1:n.638A>G
ENST00000679974.1:n.541A>G
ENST00000681632.1:n.4895A>G
ENST00000681659.1:c.3333A>G	ENSP00000505631.1:p.Gln1111=
ENST00000355832.9:c.3492A>G	ENSP00000348089.5:p.Gln1164=
ENST00000623073.3:c.*1788A>G	ENSP00000485650.1:n.*1788A>G
ENST00000623115.3:c.1602A>G	ENSP00000485321.1:p.Gln534=
ENST00000624341.3:c.1324A>G
NM_000124.3:c.3492A>G	NP_000115.1:p.Gln1164=
XR_945953.1:n.243-1097T>C
NM_001346440.1:c.3492A>G	NP_001333369.1:p.Gln1164=
NM_000124.4:c.3492A>G MANE Select	NP_000115.1:p.Gln1164=
NM_001346440.2:c.3492A>G	NP_001333369.1:p.Gln1164=