Canonical Allele Identifier: CA5495391

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 300052
• ClinVar RCV Id: RCV000313595 ; RCV000348563 ; RCV000403215 ; RCV002522159 ; RCV004021475
• dbSNP Id: rs200093886
• ExAC: 10:50678815 T / C
• gnomAD v2: 10-50678815-T-C
• gnomAD v3: 10-49470769-T-C
• gnomAD v4: 10-49470769-T-C
• MyVariant Identifiers: chr10:g.50678815T>C (hg19) ; chr10:g.49470769T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470769T>C , CM000672.2:g.49470769T>C	GRCh38
NC_000010.10:g.50678815T>C , CM000672.1:g.50678815T>C	GRCh37
NC_000010.9:g.50348821T>C	NCBI36
NG_009442.1:g.73333A>G , LRG_465:g.73333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3191A>G MANE Select	ENSP00000348089.5:p.Asn1064Ser
ENST00000679552.1:n.262A>G
ENST00000679871.1:n.337A>G
ENST00000679974.1:n.240A>G
ENST00000681632.1:n.4594A>G
ENST00000681659.1:c.3032A>G	ENSP00000505631.1:p.Asn1011Ser
ENST00000355832.9:c.3191A>G	ENSP00000348089.5:p.Asn1064Ser
ENST00000623073.3:c.*1487A>G	ENSP00000485650.1:n.*1487A>G
ENST00000623115.3:c.1301A>G	ENSP00000485321.1:p.Asn434Ser
ENST00000624341.3:c.1023A>G
NM_000124.3:c.3191A>G	NP_000115.1:p.Asn1064Ser
XR_945953.1:n.243-796T>C
NM_001346440.1:c.3191A>G	NP_001333369.1:p.Asn1064Ser
NM_000124.4:c.3191A>G MANE Select	NP_000115.1:p.Asn1064Ser
NM_001346440.2:c.3191A>G	NP_001333369.1:p.Asn1064Ser