Canonical Allele Identifier: CA444462597

Gene: ERCC8

Linked Data

• MyVariant Identifiers: chr5:g.60183270A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887443A>G , CM000667.2:g.60887443A>G	GRCh38
NC_000005.9:g.60183270A>G , CM000667.1:g.60183270A>G	GRCh37
NC_000005.8:g.60219027A>G	NCBI36
NG_009289.1:g.62636T>C , LRG_466:g.62636T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10833T>C	ENSP00000408344.2:n.855+10833T>C
ENST00000647431.2:c.1220T>C	ENSP00000494726.2:n.1220T>C
ENST00000675042.2:c.945T>C	ENSP00000502082.2:p.Asp315=
ENST00000675452.2:c.*1084T>C	ENSP00000506954.1:n.*1084T>C
ENST00000682217.1:c.921T>C	ENSP00000507570.1:p.Asp307=
ENST00000682375.1:c.*949T>C	ENSP00000507551.1:n.*949T>C
ENST00000683052.1:c.921T>C	ENSP00000507072.1:p.Asp307=
ENST00000683216.1:n.4756T>C
ENST00000683460.1:c.*2556T>C	ENSP00000507820.1:n.*2556T>C
ENST00000683688.1:n.2865T>C
ENST00000684621.1:n.977T>C
ENST00000265038.10:c.1176T>C	ENSP00000265038.6:p.Asp392=
ENST00000643034.1:c.*1011T>C	ENSP00000496080.1:n.*1011T>C
ENST00000643708.1:c.*949T>C	ENSP00000494199.1:n.*949T>C
ENST00000647431.1:c.1171T>C
ENST00000675378.1:c.*120T>C	ENSP00000502535.1:n.*120T>C
ENST00000675452.1:n.1368T>C
ENST00000676185.1:c.1119T>C MANE Select	ENSP00000501614.1:p.Asp373=
ENST00000265038.9:c.1119T>C	ENSP00000265038.5:p.Asp373=
ENST00000381118.7:c.*1163T>C	ENSP00000370510.3:n.*1163T>C
ENST00000462279.5:n.2571T>C
NM_000082.3:c.1119T>C , LRG_466t1:c.1119T>C	NP_000073.1:p.Asp373=
NM_001007233.2:c.945T>C	NP_001007234.1:p.Asp315=
NM_001290285.1:c.660T>C	NP_001277214.1:p.Asp220=
NM_000082.4:c.1119T>C MANE Select	NP_000073.1:p.Asp373=
NM_001007233.3:c.945T>C	NP_001007234.1:p.Asp315=
NM_001290285.2:c.660T>C	NP_001277214.1:p.Asp220=