Canonical Allele Identifier: CA469604048

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1611174
• ClinVar RCV Id: RCV002157770
• dbSNP Id: rs2132551813
• COSMIC: COSM4989968
• MyVariant Identifiers: chr10:g.50690856G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482810G>A , CM000672.2:g.49482810G>A	GRCh38
NC_000010.10:g.50690856G>A , CM000672.1:g.50690856G>A	GRCh37
NC_000010.9:g.50360862G>A	NCBI36
NG_009442.1:g.61292C>T , LRG_465:g.61292C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2046C>T MANE Select	ENSP00000348089.5:p.Leu682=
ENST00000681632.1:n.2124C>T
ENST00000681659.1:c.1887C>T	ENSP00000505631.1:p.Leu629=
ENST00000355832.9:c.2046C>T	ENSP00000348089.5:p.Leu682=
ENST00000623073.3:c.*438C>T	ENSP00000485650.1:n.*438C>T
ENST00000623115.3:c.156C>T	ENSP00000485321.1:p.Leu52=
NM_000124.3:c.2046C>T	NP_000115.1:p.Leu682=
NM_001346440.1:c.2046C>T	NP_001333369.1:p.Leu682=
NM_000124.4:c.2046C>T MANE Select	NP_000115.1:p.Leu682=
NM_001346440.2:c.2046C>T	NP_001333369.1:p.Leu682=