Canonical Allele Identifier: CA5496559

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 252466
• ClinVar RCV Id: RCV000238687 ; RCV000289449 ; RCV000329237 ; RCV000381521 ; RCV000873158
• dbSNP Id: rs148095899
• ExAC: 10:50740611 G / A
• gnomAD v2: 10-50740611-G-A
• gnomAD v3: 10-49532565-G-A
• gnomAD v4: 10-49532565-G-A
• MyVariant Identifiers: chr10:g.50740611G>A (hg19) ; chr10:g.49532565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49532565G>A , CM000672.2:g.49532565G>A	GRCh38
NC_000010.10:g.50740611G>A , CM000672.1:g.50740611G>A	GRCh37
NC_000010.9:g.50410617G>A	NCBI36
NG_009442.1:g.11537C>T , LRG_465:g.11537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.400C>T MANE Select	ENSP00000348089.5:p.Arg134Trp
ENST00000447839.7:c.400C>T MANE Plus Clinical	ENSP00000387966.2:p.Arg134Trp
ENST00000679596.1:c.*150C>T	ENSP00000504862.1:n.*150C>T
ENST00000679811.1:n.483C>T
ENST00000680107.1:c.400C>T	ENSP00000505909.1:p.Arg134Trp
ENST00000680233.1:n.493C>T
ENST00000681632.1:n.478C>T
ENST00000681659.1:c.400C>T	ENSP00000505631.1:p.Arg134Trp
ENST00000355832.9:c.400C>T	ENSP00000348089.5:p.Arg134Trp
ENST00000447839.6:c.400C>T	ENSP00000387966.2:p.Arg134Trp
ENST00000462247.1:c.400C>T	ENSP00000422827.1:p.Arg134Trp
ENST00000515869.1:c.400C>T	ENSP00000423550.1:p.Arg134Trp
NM_000124.3:c.400C>T	NP_000115.1:p.Arg134Trp
NM_001277058.1:c.400C>T	NP_001263987.1:p.Arg134Trp
NM_001277059.1:c.400C>T	NP_001263988.1:p.Arg134Trp
NM_001346440.1:c.400C>T	NP_001333369.1:p.Arg134Trp
NM_000124.4:c.400C>T MANE Select	NP_000115.1:p.Arg134Trp
NM_001277058.2:c.400C>T MANE Plus Clinical	NP_001263987.1:p.Arg134Trp
NM_001277059.2:c.400C>T	NP_001263988.1:p.Arg134Trp
NM_001346440.2:c.400C>T	NP_001333369.1:p.Arg134Trp