Canonical Allele Identifier: CA376755478

Gene: ERCC6

Linked Data

• dbSNP Id: rs1167725262
• gnomAD v2: 10-50732788-G-T
• gnomAD v4: 10-49524742-G-T
• MyVariant Identifiers: chr10:g.50732788G>T (hg19) ; chr10:g.49524742G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524742G>T , CM000672.2:g.49524742G>T	GRCh38
NC_000010.10:g.50732788G>T , CM000672.1:g.50732788G>T	GRCh37
NC_000010.9:g.50402794G>T	NCBI36
NG_009442.1:g.19360C>A , LRG_465:g.19360C>A
NG_033155.1:g.4540C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.688C>A MANE Select	ENSP00000348089.5:p.Pro230Thr
ENST00000447839.7:c.688C>A MANE Plus Clinical	ENSP00000387966.2:p.Pro230Thr
ENST00000679596.1:c.*317C>A	ENSP00000504862.1:n.*317C>A
ENST00000679811.1:n.771C>A
ENST00000680107.1:c.652+3675C>A	ENSP00000505909.1:n.652+3675C>A
ENST00000680233.1:n.781C>A
ENST00000681632.1:n.766C>A
ENST00000681659.1:c.688C>A	ENSP00000505631.1:p.Pro230Thr
ENST00000355832.9:c.688C>A	ENSP00000348089.5:p.Pro230Thr
ENST00000447839.6:c.688C>A	ENSP00000387966.2:p.Pro230Thr
ENST00000515869.1:c.688C>A	ENSP00000423550.1:p.Pro230Thr
NM_000124.3:c.688C>A	NP_000115.1:p.Pro230Thr
NM_001277058.1:c.688C>A	NP_001263987.1:p.Pro230Thr
NM_001277059.1:c.688C>A	NP_001263988.1:p.Pro230Thr
NM_001346440.1:c.688C>A	NP_001333369.1:p.Pro230Thr
NM_000124.4:c.688C>A MANE Select	NP_000115.1:p.Pro230Thr
NM_001277058.2:c.688C>A MANE Plus Clinical	NP_001263987.1:p.Pro230Thr
NM_001277059.2:c.688C>A	NP_001263988.1:p.Pro230Thr
NM_001346440.2:c.688C>A	NP_001333369.1:p.Pro230Thr