Canonical Allele Identifier: CA1549987920

Gene: ERCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.60902446C= , CM000667.2:g.60902446C=	GRCh38
NC_000005.9:g.60198273C= , CM000667.1:g.60198273C=	GRCh37
NC_000005.8:g.60234030C=	NCBI36
NG_009289.1:g.47633G= , LRG_466:g.47633G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000082.4:c.613G= MANE Select	NP_000073.1:p.Ala205=
ENST00000676185.1:c.613G= MANE Select	ENSP00000501614.1:p.Ala205=
NM_000082.3:c.613G= , LRG_466t1:c.613G=	NP_000073.1:p.Ala205=
NM_001007233.2:c.439G=	NP_001007234.1:p.Ala147=
NM_001007233.3:c.439G=	NP_001007234.1:p.Ala147=
NM_001290285.1:c.154G=	NP_001277214.1:p.Ala52=
NM_001290285.2:c.154G=	NP_001277214.1:p.Ala52=
ENST00000265038.10:c.613G=	ENSP00000265038.6:p.Ala205=
ENST00000265038.9:c.613G=	ENSP00000265038.5:p.Ala205=
ENST00000381118.7:c.*657G=	ENSP00000370510.3:n.*657G=
ENST00000439176.6:c.625G=	ENSP00000408344.2:p.Ala209=
ENST00000462279.5:n.458G=
ENST00000484330.5:n.289G=
ENST00000495985.5:n.390G=
ENST00000643034.1:c.*505G=	ENSP00000496080.1:n.*505G=
ENST00000643708.1:c.*443G=	ENSP00000494199.1:n.*443G=
ENST00000647431.1:c.665G=
ENST00000647431.2:c.714G=	ENSP00000494726.2:n.714G=
ENST00000647486.1:c.645G=
ENST00000647486.2:c.694G=	ENSP00000494466.2:n.694G=
ENST00000675042.2:c.439G=	ENSP00000502082.2:p.Ala147=
ENST00000675378.1:c.613G=	ENSP00000502535.1:p.Ala205=
ENST00000675452.1:n.862G=
ENST00000675452.2:c.*578G=	ENSP00000506954.1:n.*578G=
ENST00000682217.1:c.613G=	ENSP00000507570.1:p.Ala205=
ENST00000682246.1:n.669G=
ENST00000682375.1:c.*443G=	ENSP00000507551.1:n.*443G=
ENST00000683052.1:c.415G=	ENSP00000507072.1:p.Ala139=
ENST00000683199.1:n.635G=
ENST00000683216.1:n.882G=
ENST00000683460.1:c.*443G=	ENSP00000507820.1:n.*443G=
ENST00000684394.1:n.668G=
ENST00000684453.1:n.663G=
ENST00000684621.1:n.669G=