Canonical Allele Identifier: CA376708262

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49461385-T-C
• MyVariant Identifiers: chr10:g.50669431T>C (hg19) ; chr10:g.49461385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461385T>C , CM000672.2:g.49461385T>C	GRCh38
NC_000010.10:g.50669431T>C , CM000672.1:g.50669431T>C	GRCh37
NC_000010.9:g.50339437T>C	NCBI36
NG_009442.1:g.82717A>G , LRG_465:g.82717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3950A>G MANE Select	ENSP00000348089.5:p.His1317Arg
ENST00000679552.1:n.1021A>G
ENST00000679871.1:n.1096A>G
ENST00000679974.1:n.999A>G
ENST00000681632.1:n.5353A>G
ENST00000681659.1:c.3791A>G	ENSP00000505631.1:p.His1264Arg
ENST00000355832.9:c.3950A>G	ENSP00000348089.5:p.His1317Arg
ENST00000465653.1:n.272A>G
ENST00000623073.3:c.*2246A>G	ENSP00000485650.1:n.*2246A>G
ENST00000623115.3:c.2060A>G	ENSP00000485321.1:p.His687Arg
ENST00000624341.3:c.1782A>G
NM_000124.3:c.3950A>G	NP_000115.1:p.His1317Arg
XR_945953.1:n.243-10180T>C
NM_001346440.1:c.3950A>G	NP_001333369.1:p.His1317Arg
NM_000124.4:c.3950A>G MANE Select	NP_000115.1:p.His1317Arg
NM_001346440.2:c.3950A>G	NP_001333369.1:p.His1317Arg