Canonical Allele Identifier: CA206595743

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2414467
• ClinVar RCV Id: RCV003108302
• dbSNP Id: rs1001286484
• gnomAD v4: 10-49482771-T-C
• MyVariant Identifiers: chr10:g.50690817T>C (hg19) ; chr10:g.49482771T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482771T>C , CM000672.2:g.49482771T>C	GRCh38
NC_000010.10:g.50690817T>C , CM000672.1:g.50690817T>C	GRCh37
NC_000010.9:g.50360823T>C	NCBI36
NG_009442.1:g.61331A>G , LRG_465:g.61331A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2085A>G MANE Select	ENSP00000348089.5:p.Gly695=
ENST00000681632.1:n.2163A>G
ENST00000681659.1:c.1926A>G	ENSP00000505631.1:p.Gly642=
ENST00000355832.9:c.2085A>G	ENSP00000348089.5:p.Gly695=
ENST00000623073.3:c.*477A>G	ENSP00000485650.1:n.*477A>G
ENST00000623115.3:c.195A>G	ENSP00000485321.1:p.Gly65=
NM_000124.3:c.2085A>G	NP_000115.1:p.Gly695=
NM_001346440.1:c.2085A>G	NP_001333369.1:p.Gly695=
NM_000124.4:c.2085A>G MANE Select	NP_000115.1:p.Gly695=
NM_001346440.2:c.2085A>G	NP_001333369.1:p.Gly695=