Canonical Allele Identifier: CA359822518

Gene: ERCC8

Linked Data

• gnomAD v4: 5-60887475-G-C
• MyVariant Identifiers: chr5:g.60183302G>C (hg19) ; chr5:g.60887475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60887475G>C , CM000667.2:g.60887475G>C	GRCh38
NC_000005.9:g.60183302G>C , CM000667.1:g.60183302G>C	GRCh37
NC_000005.8:g.60219059G>C	NCBI36
NG_009289.1:g.62604C>G , LRG_466:g.62604C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439176.6:c.855+10801C>G	ENSP00000408344.2:n.855+10801C>G
ENST00000647431.2:c.1188C>G	ENSP00000494726.2:n.1188C>G
ENST00000675042.2:c.913C>G	ENSP00000502082.2:p.Pro305Ala
ENST00000675452.2:c.*1052C>G	ENSP00000506954.1:n.*1052C>G
ENST00000682217.1:c.889C>G	ENSP00000507570.1:p.Pro297Ala
ENST00000682375.1:c.*917C>G	ENSP00000507551.1:n.*917C>G
ENST00000683052.1:c.889C>G	ENSP00000507072.1:p.Pro297Ala
ENST00000683216.1:n.4724C>G
ENST00000683460.1:c.*2524C>G	ENSP00000507820.1:n.*2524C>G
ENST00000683688.1:n.2833C>G
ENST00000684621.1:n.945C>G
ENST00000265038.10:c.1144C>G	ENSP00000265038.6:p.Pro382Ala
ENST00000643034.1:c.*979C>G	ENSP00000496080.1:n.*979C>G
ENST00000643708.1:c.*917C>G	ENSP00000494199.1:n.*917C>G
ENST00000647431.1:c.1139C>G
ENST00000675378.1:c.*88C>G	ENSP00000502535.1:n.*88C>G
ENST00000675452.1:n.1336C>G
ENST00000676185.1:c.1087C>G MANE Select	ENSP00000501614.1:p.Pro363Ala
ENST00000265038.9:c.1087C>G	ENSP00000265038.5:p.Pro363Ala
ENST00000381118.7:c.*1131C>G	ENSP00000370510.3:n.*1131C>G
ENST00000462279.5:n.2539C>G
NM_000082.3:c.1087C>G , LRG_466t1:c.1087C>G	NP_000073.1:p.Pro363Ala
NM_001007233.2:c.913C>G	NP_001007234.1:p.Pro305Ala
NM_001290285.1:c.628C>G	NP_001277214.1:p.Pro210Ala
NM_000082.4:c.1087C>G MANE Select	NP_000073.1:p.Pro363Ala
NM_001007233.3:c.913C>G	NP_001007234.1:p.Pro305Ala
NM_001290285.2:c.628C>G	NP_001277214.1:p.Pro210Ala