Canonical Allele Identifier: CA469788776

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1573076
• ClinVar RCV Id: RCV002215775
• dbSNP Id: rs2132536998
• MyVariant Identifiers: chr10:g.50678451T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470405T>C , CM000672.2:g.49470405T>C	GRCh38
NC_000010.10:g.50678451T>C , CM000672.1:g.50678451T>C	GRCh37
NC_000010.9:g.50348457T>C	NCBI36
NG_009442.1:g.73697A>G , LRG_465:g.73697A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3555A>G MANE Select	ENSP00000348089.5:p.Thr1185=
ENST00000679552.1:n.626A>G
ENST00000679871.1:n.701A>G
ENST00000679974.1:n.604A>G
ENST00000681632.1:n.4958A>G
ENST00000681659.1:c.3396A>G	ENSP00000505631.1:p.Thr1132=
ENST00000355832.9:c.3555A>G	ENSP00000348089.5:p.Thr1185=
ENST00000623073.3:c.*1851A>G	ENSP00000485650.1:n.*1851A>G
ENST00000623115.3:c.1665A>G	ENSP00000485321.1:p.Thr555=
ENST00000624341.3:c.1387A>G
NM_000124.3:c.3555A>G	NP_000115.1:p.Thr1185=
XR_945953.1:n.243-1160T>C
NM_001346440.1:c.3555A>G	NP_001333369.1:p.Thr1185=
NM_000124.4:c.3555A>G MANE Select	NP_000115.1:p.Thr1185=
NM_001346440.2:c.3555A>G	NP_001333369.1:p.Thr1185=