Canonical Allele Identifier: CA5495233

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2174280
• ClinVar RCV Id: RCV002585116
• dbSNP Id: rs767621835
• ExAC: 10:50669473 C / A
• gnomAD v2: 10-50669473-C-A
• gnomAD v3: 10-49461427-C-A
• gnomAD v4: 10-49461427-C-A
• MyVariant Identifiers: chr10:g.50669473C>A (hg19) ; chr10:g.49461427C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461427C>A , CM000672.2:g.49461427C>A	GRCh38
NC_000010.10:g.50669473C>A , CM000672.1:g.50669473C>A	GRCh37
NC_000010.9:g.50339479C>A	NCBI36
NG_009442.1:g.82675G>T , LRG_465:g.82675G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3908G>T MANE Select	ENSP00000348089.5:p.Arg1303Leu
ENST00000679552.1:n.979G>T
ENST00000679871.1:n.1054G>T
ENST00000679974.1:n.957G>T
ENST00000681632.1:n.5311G>T
ENST00000681659.1:c.3749G>T	ENSP00000505631.1:p.Arg1250Leu
ENST00000355832.9:c.3908G>T	ENSP00000348089.5:p.Arg1303Leu
ENST00000465653.1:n.230G>T
ENST00000623073.3:c.*2204G>T	ENSP00000485650.1:n.*2204G>T
ENST00000623115.3:c.2018G>T	ENSP00000485321.1:p.Arg673Leu
ENST00000624341.3:c.1740G>T
NM_000124.3:c.3908G>T	NP_000115.1:p.Arg1303Leu
XR_945953.1:n.243-10138C>A
NM_001346440.1:c.3908G>T	NP_001333369.1:p.Arg1303Leu
NM_000124.4:c.3908G>T MANE Select	NP_000115.1:p.Arg1303Leu
NM_001346440.2:c.3908G>T	NP_001333369.1:p.Arg1303Leu