Canonical Allele Identifier: CA469789010

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1131989
• ClinVar RCV Id: RCV001466044
• dbSNP Id: rs1324299242
• MyVariant Identifiers: chr10:g.50678735A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470689A>G , CM000672.2:g.49470689A>G	GRCh38
NC_000010.10:g.50678735A>G , CM000672.1:g.50678735A>G	GRCh37
NC_000010.9:g.50348741A>G	NCBI36
NG_009442.1:g.73413T>C , LRG_465:g.73413T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3271T>C MANE Select	ENSP00000348089.5:p.Leu1091=
ENST00000679552.1:n.342T>C
ENST00000679871.1:n.417T>C
ENST00000679974.1:n.320T>C
ENST00000681632.1:n.4674T>C
ENST00000681659.1:c.3112T>C	ENSP00000505631.1:p.Leu1038=
ENST00000355832.9:c.3271T>C	ENSP00000348089.5:p.Leu1091=
ENST00000623073.3:c.*1567T>C	ENSP00000485650.1:n.*1567T>C
ENST00000623115.3:c.1381T>C	ENSP00000485321.1:p.Leu461=
ENST00000624341.3:c.1103T>C
NM_000124.3:c.3271T>C	NP_000115.1:p.Leu1091=
XR_945953.1:n.243-876A>G
NM_001346440.1:c.3271T>C	NP_001333369.1:p.Leu1091=
NM_000124.4:c.3271T>C MANE Select	NP_000115.1:p.Leu1091=
NM_001346440.2:c.3271T>C	NP_001333369.1:p.Leu1091=