Canonical Allele Identifier: CA199575

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 190149
• ClinVar RCV Id: RCV000170367 ; RCV000314736 ; RCV000335795 ; RCV000402991 ; RCV000871118
• dbSNP Id: rs80133923
• ExAC: 10:50740861 C / T
• gnomAD v2: 10-50740861-C-T
• gnomAD v3: 10-49532815-C-T
• gnomAD v4: 10-49532815-C-T
• MyVariant Identifiers: chr10:g.50740861C>T (hg19) ; chr10:g.49532815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49532815C>T , CM000672.2:g.49532815C>T	GRCh38
NC_000010.10:g.50740861C>T , CM000672.1:g.50740861C>T	GRCh37
NC_000010.9:g.50410867C>T	NCBI36
NG_009442.1:g.11287G>A , LRG_465:g.11287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.150G>A MANE Select	ENSP00000348089.5:p.Val50=
ENST00000447839.7:c.150G>A MANE Plus Clinical	ENSP00000387966.2:p.Val50=
ENST00000679596.1:c.143G>A	ENSP00000504862.1:p.Trp48Ter
ENST00000679811.1:n.233G>A
ENST00000680107.1:c.150G>A	ENSP00000505909.1:p.Val50=
ENST00000680233.1:n.243G>A
ENST00000681632.1:n.228G>A
ENST00000681659.1:c.150G>A	ENSP00000505631.1:p.Val50=
ENST00000355832.9:c.150G>A	ENSP00000348089.5:p.Val50=
ENST00000447839.6:c.150G>A	ENSP00000387966.2:p.Val50=
ENST00000462247.1:c.150G>A	ENSP00000422827.1:p.Val50=
ENST00000515869.1:c.150G>A	ENSP00000423550.1:p.Val50=
NM_000124.3:c.150G>A	NP_000115.1:p.Val50=
NM_001277058.1:c.150G>A	NP_001263987.1:p.Val50=
NM_001277059.1:c.150G>A	NP_001263988.1:p.Val50=
NM_001346440.1:c.150G>A	NP_001333369.1:p.Val50=
NM_000124.4:c.150G>A MANE Select	NP_000115.1:p.Val50=
NM_001277058.2:c.150G>A MANE Plus Clinical	NP_001263987.1:p.Val50=
NM_001277059.2:c.150G>A	NP_001263988.1:p.Val50=
NM_001346440.2:c.150G>A	NP_001333369.1:p.Val50=