Canonical Allele Identifier: CA376714769

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 802570
• ClinVar RCV Id: RCV000988353 ; RCV001858690
• dbSNP Id: rs1250248245
• MyVariant Identifiers: chr10:g.50678561C>A (hg19) ; chr10:g.49470515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470515C>A , CM000672.2:g.49470515C>A	GRCh38
NC_000010.10:g.50678561C>A , CM000672.1:g.50678561C>A	GRCh37
NC_000010.9:g.50348567C>A	NCBI36
NG_009442.1:g.73587G>T , LRG_465:g.73587G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3445G>T MANE Select	ENSP00000348089.5:p.Glu1149Ter
ENST00000679552.1:n.516G>T
ENST00000679871.1:n.591G>T
ENST00000679974.1:n.494G>T
ENST00000681632.1:n.4848G>T
ENST00000681659.1:c.3286G>T	ENSP00000505631.1:p.Glu1096Ter
ENST00000355832.9:c.3445G>T	ENSP00000348089.5:p.Glu1149Ter
ENST00000623073.3:c.*1741G>T	ENSP00000485650.1:n.*1741G>T
ENST00000623115.3:c.1555G>T	ENSP00000485321.1:p.Glu519Ter
ENST00000624341.3:c.1277G>T
NM_000124.3:c.3445G>T	NP_000115.1:p.Glu1149Ter
XR_945953.1:n.243-1050C>A
NM_001346440.1:c.3445G>T	NP_001333369.1:p.Glu1149Ter
NM_000124.4:c.3445G>T MANE Select	NP_000115.1:p.Glu1149Ter
NM_001346440.2:c.3445G>T	NP_001333369.1:p.Glu1149Ter