Canonical Allele Identifier: CA469788425

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678304T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470258T>C , CM000672.2:g.49470258T>C	GRCh38
NC_000010.10:g.50678304T>C , CM000672.1:g.50678304T>C	GRCh37
NC_000010.9:g.50348310T>C	NCBI36
NG_009442.1:g.73844A>G , LRG_465:g.73844A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3702A>G MANE Select	ENSP00000348089.5:p.Gln1234=
ENST00000679552.1:n.773A>G
ENST00000679871.1:n.848A>G
ENST00000679974.1:n.751A>G
ENST00000681632.1:n.5105A>G
ENST00000681659.1:c.3543A>G	ENSP00000505631.1:p.Gln1181=
ENST00000355832.9:c.3702A>G	ENSP00000348089.5:p.Gln1234=
ENST00000465653.1:n.24A>G
ENST00000623073.3:c.*1998A>G	ENSP00000485650.1:n.*1998A>G
ENST00000623115.3:c.1812A>G	ENSP00000485321.1:p.Gln604=
ENST00000624341.3:c.1534A>G
NM_000124.3:c.3702A>G	NP_000115.1:p.Gln1234=
XR_945953.1:n.243-1307T>C
NM_001346440.1:c.3702A>G	NP_001333369.1:p.Gln1234=
NM_000124.4:c.3702A>G MANE Select	NP_000115.1:p.Gln1234=
NM_001346440.2:c.3702A>G	NP_001333369.1:p.Gln1234=