Canonical Allele Identifier: CA469788497

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1542899
• ClinVar RCV Id: RCV002167602
• dbSNP Id: rs34917815
• MyVariant Identifiers: chr10:g.50667278A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49459232A>G , CM000672.2:g.49459232A>G	GRCh38
NC_000010.10:g.50667278A>G , CM000672.1:g.50667278A>G	GRCh37
NC_000010.9:g.50337284A>G	NCBI36
NG_009442.1:g.84870T>C , LRG_465:g.84870T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4065T>C MANE Select	ENSP00000348089.5:p.Asp1355=
ENST00000679552.1:n.2274T>C
ENST00000679871.1:n.1211T>C
ENST00000679974.1:n.1114T>C
ENST00000681632.1:n.5468T>C
ENST00000681659.1:c.3906T>C	ENSP00000505631.1:p.Asp1302=
ENST00000355832.9:c.4065T>C	ENSP00000348089.5:p.Asp1355=
ENST00000623073.3:c.*2361T>C	ENSP00000485650.1:n.*2361T>C
ENST00000623115.3:c.2175T>C	ENSP00000485321.1:p.Asp725=
ENST00000624341.3:c.1897T>C
NM_000124.3:c.4065T>C	NP_000115.1:p.Asp1355=
XR_945953.1:n.243-12333A>G
NM_001346440.1:c.4065T>C	NP_001333369.1:p.Asp1355=
NM_000124.4:c.4065T>C MANE Select	NP_000115.1:p.Asp1355=
NM_001346440.2:c.4065T>C	NP_001333369.1:p.Asp1355=