Canonical Allele Identifier: CA469790625
Gene: ERCC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1620272
ClinVar RCV Id: RCV002099014
dbSNP Id: rs2132620841
MyVariant Identifiers: chr10:g.50732336C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49524290C>T , CM000672.2:g.49524290C>T GRCh38
NC_000010.10:g.50732336C>T , CM000672.1:g.50732336C>T GRCh37
NC_000010.9:g.50402342C>T NCBI36
NG_009442.1:g.19812G>A , LRG_465:g.19812G>A
NG_033155.1:g.4992G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355832.10:c.1140G>A MANE Select ENSP00000348089.5:p.Glu380=
ENST00000447839.7:c.1140G>A MANE Plus Clinical ENSP00000387966.2:p.Glu380=
ENST00000679596.1:c.*769G>A ENSP00000504862.1:n.*769G>A
ENST00000679811.1:n.1223G>A
ENST00000680107.1:c.652+4127G>A ENSP00000505909.1:n.652+4127G>A
ENST00000680233.1:n.1233G>A
ENST00000681632.1:n.1218G>A
ENST00000681659.1:c.1140G>A ENSP00000505631.1:p.Glu380=
ENST00000355832.9:c.1140G>A ENSP00000348089.5:p.Glu380=
ENST00000447839.6:c.1140G>A ENSP00000387966.2:p.Glu380=
ENST00000515869.1:c.1140G>A ENSP00000423550.1:p.Glu380=
NM_000124.3:c.1140G>A NP_000115.1:p.Glu380=
NM_001277058.1:c.1140G>A NP_001263987.1:p.Glu380=
NM_001277059.1:c.1140G>A NP_001263988.1:p.Glu380=
NM_001346440.1:c.1140G>A NP_001333369.1:p.Glu380=
NM_000124.4:c.1140G>A MANE Select NP_000115.1:p.Glu380=
NM_001277058.2:c.1140G>A MANE Plus Clinical NP_001263987.1:p.Glu380=
NM_001277059.2:c.1140G>A NP_001263988.1:p.Glu380=
NM_001346440.2:c.1140G>A NP_001333369.1:p.Glu380=