Canonical Allele Identifier: CA376713931

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 983687
• ClinVar RCV Id: RCV001263690
• dbSNP Id: rs1850754584
• MyVariant Identifiers: chr10:g.50678462T>A (hg19) ; chr10:g.49470416T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470416T>A , CM000672.2:g.49470416T>A	GRCh38
NC_000010.10:g.50678462T>A , CM000672.1:g.50678462T>A	GRCh37
NC_000010.9:g.50348468T>A	NCBI36
NG_009442.1:g.73686A>T , LRG_465:g.73686A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3544A>T MANE Select	ENSP00000348089.5:p.Lys1182Ter
ENST00000679552.1:n.615A>T
ENST00000679871.1:n.690A>T
ENST00000679974.1:n.593A>T
ENST00000681632.1:n.4947A>T
ENST00000681659.1:c.3385A>T	ENSP00000505631.1:p.Lys1129Ter
ENST00000355832.9:c.3544A>T	ENSP00000348089.5:p.Lys1182Ter
ENST00000623073.3:c.*1840A>T	ENSP00000485650.1:n.*1840A>T
ENST00000623115.3:c.1654A>T	ENSP00000485321.1:p.Lys552Ter
ENST00000624341.3:c.1376A>T
NM_000124.3:c.3544A>T	NP_000115.1:p.Lys1182Ter
XR_945953.1:n.243-1149T>A
NM_001346440.1:c.3544A>T	NP_001333369.1:p.Lys1182Ter
NM_000124.4:c.3544A>T MANE Select	NP_000115.1:p.Lys1182Ter
NM_001346440.2:c.3544A>T	NP_001333369.1:p.Lys1182Ter