Canonical Allele Identifier: CA444462712

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60890985G>A , CM000667.2:g.60890985G>A	GRCh38
NC_000005.9:g.60186812G>A , CM000667.1:g.60186812G>A	GRCh37
NC_000005.8:g.60222569G>A	NCBI36
NG_009289.1:g.59094C>T , LRG_466:g.59094C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.945C>T MANE Select	NP_000073.1:p.Thr315=
ENST00000676185.1:c.945C>T MANE Select	ENSP00000501614.1:p.Thr315=
NM_000082.3:c.945C>T , LRG_466t1:c.945C>T	NP_000073.1:p.Thr315=
NM_001007233.2:c.771C>T	NP_001007234.1:p.Thr257=
NM_001007233.3:c.771C>T	NP_001007234.1:p.Thr257=
NM_001290285.1:c.486C>T	NP_001277214.1:p.Thr162=
NM_001290285.2:c.486C>T	NP_001277214.1:p.Thr162=
ENST00000265038.10:c.1002C>T	ENSP00000265038.6:p.Thr334=
ENST00000265038.9:c.945C>T	ENSP00000265038.5:p.Thr315=
ENST00000381118.7:c.*989C>T	ENSP00000370510.3:n.*989C>T
ENST00000439176.6:c.855+7291C>T	ENSP00000408344.2:n.855+7291C>T
ENST00000462279.5:n.2397C>T
ENST00000643034.1:c.*837C>T	ENSP00000496080.1:n.*837C>T
ENST00000643708.1:c.*775C>T	ENSP00000494199.1:n.*775C>T
ENST00000647431.1:c.997C>T
ENST00000647431.2:c.1046C>T	ENSP00000494726.2:n.1046C>T
ENST00000647486.1:c.1167C>T
ENST00000647486.2:c.1216C>T	ENSP00000494466.2:n.1216C>T
ENST00000675042.2:c.771C>T	ENSP00000502082.2:p.Thr257=
ENST00000675378.1:c.945C>T	ENSP00000502535.1:p.Thr315=
ENST00000675452.1:n.1194C>T
ENST00000675452.2:c.*910C>T	ENSP00000506954.1:n.*910C>T
ENST00000682217.1:c.844-3465C>T	ENSP00000507570.1:n.844-3465C>T
ENST00000682375.1:c.*775C>T	ENSP00000507551.1:n.*775C>T
ENST00000683052.1:c.747C>T	ENSP00000507072.1:p.Thr249=
ENST00000683199.1:n.967C>T
ENST00000683216.1:n.1214C>T
ENST00000683460.1:c.*2382C>T	ENSP00000507820.1:n.*2382C>T
ENST00000684453.1:n.2602C>T
ENST00000684621.1:n.900-3465C>T