Canonical Allele Identifier: CA5496450

Gene: ERCC6

Linked Data

• ClinVar Variation Id: 2170223
• ClinVar RCV Id: RCV003088549
• dbSNP Id: rs748181487
• ExAC: 10:50732743 T / C
• gnomAD v2: 10-50732743-T-C
• gnomAD v3: 10-49524697-T-C
• gnomAD v4: 10-49524697-T-C
• MyVariant Identifiers: chr10:g.50732743T>C (hg19) ; chr10:g.49524697T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524697T>C , CM000672.2:g.49524697T>C	GRCh38
NC_000010.10:g.50732743T>C , CM000672.1:g.50732743T>C	GRCh37
NC_000010.9:g.50402749T>C	NCBI36
NG_009442.1:g.19405A>G , LRG_465:g.19405A>G
NG_033155.1:g.4585A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.733A>G MANE Select	ENSP00000348089.5:p.Met245Val
ENST00000447839.7:c.733A>G MANE Plus Clinical	ENSP00000387966.2:p.Met245Val
ENST00000679596.1:c.*362A>G	ENSP00000504862.1:n.*362A>G
ENST00000679811.1:n.816A>G
ENST00000680107.1:c.652+3720A>G	ENSP00000505909.1:n.652+3720A>G
ENST00000680233.1:n.826A>G
ENST00000681632.1:n.811A>G
ENST00000681659.1:c.733A>G	ENSP00000505631.1:p.Met245Val
ENST00000355832.9:c.733A>G	ENSP00000348089.5:p.Met245Val
ENST00000447839.6:c.733A>G	ENSP00000387966.2:p.Met245Val
ENST00000515869.1:c.733A>G	ENSP00000423550.1:p.Met245Val
NM_000124.3:c.733A>G	NP_000115.1:p.Met245Val
NM_001277058.1:c.733A>G	NP_001263987.1:p.Met245Val
NM_001277059.1:c.733A>G	NP_001263988.1:p.Met245Val
NM_001346440.1:c.733A>G	NP_001333369.1:p.Met245Val
NM_000124.4:c.733A>G MANE Select	NP_000115.1:p.Met245Val
NM_001277058.2:c.733A>G MANE Plus Clinical	NP_001263987.1:p.Met245Val
NM_001277059.2:c.733A>G	NP_001263988.1:p.Met245Val
NM_001346440.2:c.733A>G	NP_001333369.1:p.Met245Val