Canonical Allele Identifier: CA469788721

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678430T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470384T>C , CM000672.2:g.49470384T>C	GRCh38
NC_000010.10:g.50678430T>C , CM000672.1:g.50678430T>C	GRCh37
NC_000010.9:g.50348436T>C	NCBI36
NG_009442.1:g.73718A>G , LRG_465:g.73718A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3576A>G MANE Select	ENSP00000348089.5:p.Glu1192=
ENST00000679552.1:n.647A>G
ENST00000679871.1:n.722A>G
ENST00000679974.1:n.625A>G
ENST00000681632.1:n.4979A>G
ENST00000681659.1:c.3417A>G	ENSP00000505631.1:p.Glu1139=
ENST00000355832.9:c.3576A>G	ENSP00000348089.5:p.Glu1192=
ENST00000623073.3:c.*1872A>G	ENSP00000485650.1:n.*1872A>G
ENST00000623115.3:c.1686A>G	ENSP00000485321.1:p.Glu562=
ENST00000624341.3:c.1408A>G
NM_000124.3:c.3576A>G	NP_000115.1:p.Glu1192=
XR_945953.1:n.243-1181T>C
NM_001346440.1:c.3576A>G	NP_001333369.1:p.Glu1192=
NM_000124.4:c.3576A>G MANE Select	NP_000115.1:p.Glu1192=
NM_001346440.2:c.3576A>G	NP_001333369.1:p.Glu1192=