Canonical Allele Identifier: CA3277749

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60899690C>G , CM000667.2:g.60899690C>G	GRCh38
NC_000005.9:g.60195517C>G , CM000667.1:g.60195517C>G	GRCh37
NC_000005.8:g.60231274C>G	NCBI36
NG_009289.1:g.50389G>C , LRG_466:g.50389G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.655G>C MANE Select	NP_000073.1:p.Ala219Pro
ENST00000676185.1:c.655G>C MANE Select	ENSP00000501614.1:p.Ala219Pro
NM_000082.3:c.655G>C , LRG_466t1:c.655G>C	NP_000073.1:p.Ala219Pro
NM_001007233.2:c.481G>C	NP_001007234.1:p.Ala161Pro
NM_001007233.3:c.481G>C	NP_001007234.1:p.Ala161Pro
NM_001290285.1:c.196G>C	NP_001277214.1:p.Ala66Pro
NM_001290285.2:c.196G>C	NP_001277214.1:p.Ala66Pro
ENST00000265038.10:c.655G>C	ENSP00000265038.6:p.Ala219Pro
ENST00000265038.9:c.655G>C	ENSP00000265038.5:p.Ala219Pro
ENST00000381118.7:c.*699G>C	ENSP00000370510.3:n.*699G>C
ENST00000439176.6:c.667G>C	ENSP00000408344.2:p.Ala223Pro
ENST00000462279.5:n.500G>C
ENST00000484330.5:n.331G>C
ENST00000495985.5:n.432G>C
ENST00000643034.1:c.*547G>C	ENSP00000496080.1:n.*547G>C
ENST00000643708.1:c.*485G>C	ENSP00000494199.1:n.*485G>C
ENST00000647431.1:c.707G>C
ENST00000647431.2:c.756G>C	ENSP00000494726.2:n.756G>C
ENST00000647486.1:c.877G>C
ENST00000647486.2:c.926G>C	ENSP00000494466.2:n.926G>C
ENST00000675042.2:c.481G>C	ENSP00000502082.2:p.Ala161Pro
ENST00000675378.1:c.655G>C	ENSP00000502535.1:p.Ala219Pro
ENST00000675452.1:n.904G>C
ENST00000675452.2:c.*620G>C	ENSP00000506954.1:n.*620G>C
ENST00000682217.1:c.655G>C	ENSP00000507570.1:p.Ala219Pro
ENST00000682246.1:n.711G>C
ENST00000682375.1:c.*485G>C	ENSP00000507551.1:n.*485G>C
ENST00000683052.1:c.457G>C	ENSP00000507072.1:p.Ala153Pro
ENST00000683199.1:n.677G>C
ENST00000683216.1:n.924G>C
ENST00000683460.1:c.*485G>C	ENSP00000507820.1:n.*485G>C
ENST00000684394.1:n.710G>C
ENST00000684453.1:n.705G>C
ENST00000684621.1:n.711G>C