Canonical Allele Identifier: CA359826782

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60903675A>G , CM000667.2:g.60903675A>G	GRCh38
NC_000005.9:g.60199502A>G , CM000667.1:g.60199502A>G	GRCh37
NC_000005.8:g.60235259A>G	NCBI36
NG_009289.1:g.46404T>C , LRG_466:g.46404T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.523T>C MANE Select	NP_000073.1:p.Ser175Pro
ENST00000676185.1:c.523T>C MANE Select	ENSP00000501614.1:p.Ser175Pro
NM_000082.3:c.523T>C , LRG_466t1:c.523T>C	NP_000073.1:p.Ser175Pro
NM_001007233.2:c.349T>C	NP_001007234.1:p.Ser117Pro
NM_001007233.3:c.349T>C	NP_001007234.1:p.Ser117Pro
NM_001007234.2:c.523T>C	NP_001007235.1:p.Ser175Pro
NM_001007234.3:c.523T>C	NP_001007235.1:p.Ser175Pro
NM_001290285.1:c.64T>C	NP_001277214.1:p.Ser22Pro
NM_001290285.2:c.64T>C	NP_001277214.1:p.Ser22Pro
ENST00000265038.10:c.523T>C	ENSP00000265038.6:p.Ser175Pro
ENST00000265038.9:c.523T>C	ENSP00000265038.5:p.Ser175Pro
ENST00000381118.7:c.*567T>C	ENSP00000370510.3:n.*567T>C
ENST00000439176.5:c.349T>C	ENSP00000408344.1:p.Ser117Pro
ENST00000439176.6:c.523T>C	ENSP00000408344.2:p.Ser175Pro
ENST00000462279.5:n.368T>C
ENST00000484330.5:n.227-1167T>C
ENST00000495985.5:n.300T>C
ENST00000497892.5:n.566T>C
ENST00000497892.6:c.*321T>C	ENSP00000501805.1:n.*321T>C
ENST00000643034.1:c.*415T>C	ENSP00000496080.1:n.*415T>C
ENST00000643708.1:c.*353T>C	ENSP00000494199.1:n.*353T>C
ENST00000647431.1:c.575T>C
ENST00000647431.2:c.624T>C	ENSP00000494726.2:n.624T>C
ENST00000647486.1:c.474T>C
ENST00000647486.2:c.523T>C	ENSP00000494466.2:p.Ser175Pro
ENST00000675042.1:c.349T>C	ENSP00000502082.1:p.Ser117Pro
ENST00000675042.2:c.349T>C	ENSP00000502082.2:p.Ser117Pro
ENST00000675229.1:c.523T>C	ENSP00000502154.1:p.Ser175Pro
ENST00000675378.1:c.523T>C	ENSP00000502535.1:p.Ser175Pro
ENST00000675452.1:n.772T>C
ENST00000675452.2:c.*488T>C	ENSP00000506954.1:n.*488T>C
ENST00000675920.1:n.1131T>C
ENST00000682217.1:c.523T>C	ENSP00000507570.1:p.Ser175Pro
ENST00000682246.1:n.579T>C
ENST00000682375.1:c.*353T>C	ENSP00000507551.1:n.*353T>C
ENST00000683052.1:c.325T>C	ENSP00000507072.1:p.Ser109Pro
ENST00000683199.1:n.545T>C
ENST00000683216.1:n.792T>C
ENST00000683460.1:c.*353T>C	ENSP00000507820.1:n.*353T>C
ENST00000684394.1:n.578T>C
ENST00000684453.1:n.573T>C
ENST00000684621.1:n.579T>C