Canonical Allele Identifier: CA5496412

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1590788
• ClinVar RCV Id: RCV002103807
• dbSNP Id: rs553003136
• ExAC: 10:50732552 C / T
• gnomAD v2: 10-50732552-C-T
• gnomAD v3: 10-49524506-C-T
• gnomAD v4: 10-49524506-C-T
• MyVariant Identifiers: chr10:g.50732552C>T (hg19) ; chr10:g.50732552_50732570delinsTACTGGGGCTGGAGGCGTG (hg19) ; chr10:g.49524506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524506C>T , CM000672.2:g.49524506C>T	GRCh38
NC_000010.10:g.50732552C>T , CM000672.1:g.50732552C>T	GRCh37
NC_000010.9:g.50402558C>T	NCBI36
NG_009442.1:g.19596G>A , LRG_465:g.19596G>A
NG_033155.1:g.4776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.924G>A MANE Select	ENSP00000348089.5:p.Val308=
ENST00000447839.7:c.924G>A MANE Plus Clinical	ENSP00000387966.2:p.Val308=
ENST00000679596.1:c.*553G>A	ENSP00000504862.1:n.*553G>A
ENST00000679811.1:n.1007G>A
ENST00000680107.1:c.652+3911G>A	ENSP00000505909.1:n.652+3911G>A
ENST00000680233.1:n.1017G>A
ENST00000681632.1:n.1002G>A
ENST00000681659.1:c.924G>A	ENSP00000505631.1:p.Val308=
ENST00000355832.9:c.924G>A	ENSP00000348089.5:p.Val308=
ENST00000447839.6:c.924G>A	ENSP00000387966.2:p.Val308=
ENST00000515869.1:c.924G>A	ENSP00000423550.1:p.Val308=
NM_000124.3:c.924G>A	NP_000115.1:p.Val308=
NM_001277058.1:c.924G>A	NP_001263987.1:p.Val308=
NM_001277059.1:c.924G>A	NP_001263988.1:p.Val308=
NM_001346440.1:c.924G>A	NP_001333369.1:p.Val308=
NM_000124.4:c.924G>A MANE Select	NP_000115.1:p.Val308=
NM_001277058.2:c.924G>A MANE Plus Clinical	NP_001263987.1:p.Val308=
NM_001277059.2:c.924G>A	NP_001263988.1:p.Val308=
NM_001346440.2:c.924G>A	NP_001333369.1:p.Val308=