Canonical Allele Identifier: CA359826041

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60902500G>A , CM000667.2:g.60902500G>A	GRCh38
NC_000005.9:g.60198327G>A , CM000667.1:g.60198327G>A	GRCh37
NC_000005.8:g.60234084G>A	NCBI36
NG_009289.1:g.47579C>T , LRG_466:g.47579C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.559C>T MANE Select	NP_000073.1:p.Gln187Ter
ENST00000676185.1:c.559C>T MANE Select	ENSP00000501614.1:p.Gln187Ter
NM_000082.3:c.559C>T , LRG_466t1:c.559C>T	NP_000073.1:p.Gln187Ter
NM_001007233.2:c.385C>T	NP_001007234.1:p.Gln129Ter
NM_001007233.3:c.385C>T	NP_001007234.1:p.Gln129Ter
NM_001290285.1:c.100C>T	NP_001277214.1:p.Gln34Ter
NM_001290285.2:c.100C>T	NP_001277214.1:p.Gln34Ter
ENST00000265038.10:c.559C>T	ENSP00000265038.6:p.Gln187Ter
ENST00000265038.9:c.559C>T	ENSP00000265038.5:p.Gln187Ter
ENST00000381118.7:c.*603C>T	ENSP00000370510.3:n.*603C>T
ENST00000439176.5:c.385C>T	ENSP00000408344.1:p.Gln129Ter
ENST00000439176.6:c.571C>T	ENSP00000408344.2:p.Gln191Ter
ENST00000462279.5:n.404C>T
ENST00000484330.5:n.235C>T
ENST00000495985.5:n.336C>T
ENST00000643034.1:c.*451C>T	ENSP00000496080.1:n.*451C>T
ENST00000643708.1:c.*389C>T	ENSP00000494199.1:n.*389C>T
ENST00000647431.1:c.611C>T
ENST00000647431.2:c.660C>T	ENSP00000494726.2:n.660C>T
ENST00000647486.1:c.591C>T
ENST00000647486.2:c.640C>T	ENSP00000494466.2:n.640C>T
ENST00000675042.1:c.385C>T	ENSP00000502082.1:p.Gln129Ter
ENST00000675042.2:c.385C>T	ENSP00000502082.2:p.Gln129Ter
ENST00000675378.1:c.559C>T	ENSP00000502535.1:p.Gln187Ter
ENST00000675452.1:n.808C>T
ENST00000675452.2:c.*524C>T	ENSP00000506954.1:n.*524C>T
ENST00000682217.1:c.559C>T	ENSP00000507570.1:p.Gln187Ter
ENST00000682246.1:n.615C>T
ENST00000682375.1:c.*389C>T	ENSP00000507551.1:n.*389C>T
ENST00000683052.1:c.361C>T	ENSP00000507072.1:p.Gln121Ter
ENST00000683199.1:n.581C>T
ENST00000683216.1:n.828C>T
ENST00000683460.1:c.*389C>T	ENSP00000507820.1:n.*389C>T
ENST00000684394.1:n.614C>T
ENST00000684453.1:n.609C>T
ENST00000684621.1:n.615C>T