Canonical Allele Identifier: CA469790822

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 1119766
• ClinVar RCV Id: RCV001449367
• dbSNP Id: rs2132622005
• gnomAD v4: 10-49524710-G-T
• MyVariant Identifiers: chr10:g.50732756G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524710G>T , CM000672.2:g.49524710G>T	GRCh38
NC_000010.10:g.50732756G>T , CM000672.1:g.50732756G>T	GRCh37
NC_000010.9:g.50402762G>T	NCBI36
NG_009442.1:g.19392C>A , LRG_465:g.19392C>A
NG_033155.1:g.4572C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.720C>A MANE Select	ENSP00000348089.5:p.Ile240=
ENST00000447839.7:c.720C>A MANE Plus Clinical	ENSP00000387966.2:p.Ile240=
ENST00000679596.1:c.*349C>A	ENSP00000504862.1:n.*349C>A
ENST00000679811.1:n.803C>A
ENST00000680107.1:c.652+3707C>A	ENSP00000505909.1:n.652+3707C>A
ENST00000680233.1:n.813C>A
ENST00000681632.1:n.798C>A
ENST00000681659.1:c.720C>A	ENSP00000505631.1:p.Ile240=
ENST00000355832.9:c.720C>A	ENSP00000348089.5:p.Ile240=
ENST00000447839.6:c.720C>A	ENSP00000387966.2:p.Ile240=
ENST00000515869.1:c.720C>A	ENSP00000423550.1:p.Ile240=
NM_000124.3:c.720C>A	NP_000115.1:p.Ile240=
NM_001277058.1:c.720C>A	NP_001263987.1:p.Ile240=
NM_001277059.1:c.720C>A	NP_001263988.1:p.Ile240=
NM_001346440.1:c.720C>A	NP_001333369.1:p.Ile240=
NM_000124.4:c.720C>A MANE Select	NP_000115.1:p.Ile240=
NM_001277058.2:c.720C>A MANE Plus Clinical	NP_001263987.1:p.Ile240=
NM_001277059.2:c.720C>A	NP_001263988.1:p.Ile240=
NM_001346440.2:c.720C>A	NP_001333369.1:p.Ile240=