Canonical Allele Identifier: CA444462604

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183282A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887455A>G , CM000667.2:g.60887455A>G	GRCh38
NC_000005.9:g.60183282A>G , CM000667.1:g.60183282A>G	GRCh37
NC_000005.8:g.60219039A>G	NCBI36
NG_009289.1:g.62624T>C , LRG_466:g.62624T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10821T>C	ENSP00000408344.2:n.855+10821T>C
ENST00000647431.2:c.1208T>C	ENSP00000494726.2:n.1208T>C
ENST00000675042.2:c.933T>C	ENSP00000502082.2:p.Val311=
ENST00000675452.2:c.*1072T>C	ENSP00000506954.1:n.*1072T>C
ENST00000682217.1:c.909T>C	ENSP00000507570.1:p.Val303=
ENST00000682375.1:c.*937T>C	ENSP00000507551.1:n.*937T>C
ENST00000683052.1:c.909T>C	ENSP00000507072.1:p.Val303=
ENST00000683216.1:n.4744T>C
ENST00000683460.1:c.*2544T>C	ENSP00000507820.1:n.*2544T>C
ENST00000683688.1:n.2853T>C
ENST00000684621.1:n.965T>C
ENST00000265038.10:c.1164T>C	ENSP00000265038.6:p.Val388=
ENST00000643034.1:c.*999T>C	ENSP00000496080.1:n.*999T>C
ENST00000643708.1:c.*937T>C	ENSP00000494199.1:n.*937T>C
ENST00000647431.1:c.1159T>C
ENST00000675378.1:c.*108T>C	ENSP00000502535.1:n.*108T>C
ENST00000675452.1:n.1356T>C
ENST00000676185.1:c.1107T>C MANE Select	ENSP00000501614.1:p.Val369=
ENST00000265038.9:c.1107T>C	ENSP00000265038.5:p.Val369=
ENST00000381118.7:c.*1151T>C	ENSP00000370510.3:n.*1151T>C
ENST00000462279.5:n.2559T>C
NM_000082.3:c.1107T>C , LRG_466t1:c.1107T>C	NP_000073.1:p.Val369=
NM_001007233.2:c.933T>C	NP_001007234.1:p.Val311=
NM_001290285.1:c.648T>C	NP_001277214.1:p.Val216=
NM_000082.4:c.1107T>C MANE Select	NP_000073.1:p.Val369=
NM_001007233.3:c.933T>C	NP_001007234.1:p.Val311=
NM_001290285.2:c.648T>C	NP_001277214.1:p.Val216=