Canonical Allele Identifier: CA359824812

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60898275C>A , CM000667.2:g.60898275C>A	GRCh38
NC_000005.9:g.60194102C>A , CM000667.1:g.60194102C>A	GRCh37
NC_000005.8:g.60229859C>A	NCBI36
NG_009289.1:g.51804G>T , LRG_466:g.51804G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.843+1G>T MANE Select	NP_000073.1:n.843+1G>T
ENST00000676185.1:c.843+1G>T MANE Select	ENSP00000501614.1:n.843+1G>T
NM_000082.3:c.843+1G>T , LRG_466t1:c.843+1G>T	NP_000073.1:n.843+1G>T
NM_001007233.2:c.669+1G>T	NP_001007234.1:n.669+1G>T
NM_001007233.3:c.669+1G>T	NP_001007234.1:n.669+1G>T
NM_001290285.1:c.384+1G>T	NP_001277214.1:n.384+1G>T
NM_001290285.2:c.384+1G>T	NP_001277214.1:n.384+1G>T
ENST00000265038.10:c.843+1G>T	ENSP00000265038.6:n.843+1G>T
ENST00000265038.9:c.843+1G>T	ENSP00000265038.5:n.843+1G>T
ENST00000381118.7:c.*887+1G>T	ENSP00000370510.3:n.*887+1G>T
ENST00000439176.6:c.855+1G>T	ENSP00000408344.2:n.855+1G>T
ENST00000462279.5:n.688+1G>T
ENST00000643034.1:c.*735+1G>T	ENSP00000496080.1:n.*735+1G>T
ENST00000643708.1:c.*673+1G>T	ENSP00000494199.1:n.*673+1G>T
ENST00000647431.1:c.895+1G>T
ENST00000647431.2:c.944+1G>T	ENSP00000494726.2:n.944+1G>T
ENST00000647486.1:c.1065+1G>T
ENST00000647486.2:c.1114+1G>T	ENSP00000494466.2:n.1114+1G>T
ENST00000675042.2:c.669+1G>T	ENSP00000502082.2:n.669+1G>T
ENST00000675378.1:c.843+1G>T	ENSP00000502535.1:n.843+1G>T
ENST00000675452.1:n.1092+1G>T
ENST00000675452.2:c.*808+1G>T	ENSP00000506954.1:n.*808+1G>T
ENST00000682217.1:c.843+1G>T	ENSP00000507570.1:n.843+1G>T
ENST00000682246.1:n.899+1G>T
ENST00000682375.1:c.*673+1G>T	ENSP00000507551.1:n.*673+1G>T
ENST00000683052.1:c.645+1G>T	ENSP00000507072.1:n.645+1G>T
ENST00000683199.1:n.865+1G>T
ENST00000683216.1:n.1112+1G>T
ENST00000683460.1:c.*673+1G>T	ENSP00000507820.1:n.*673+1G>T
ENST00000684394.1:n.899G>T
ENST00000684453.1:n.893+1G>T
ENST00000684621.1:n.899+1G>T