Canonical Allele Identifier: CA1908749725

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471114G= , CM000672.2:g.49471114G=	GRCh38
NC_000010.10:g.50679160G= , CM000672.1:g.50679160G=	GRCh37
NC_000010.9:g.50349166G=	NCBI36
NG_009442.1:g.72988C= , LRG_465:g.72988C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2931C= MANE Select	ENSP00000348089.5:p.Ile977=
ENST00000679552.1:n.142-225C=
ENST00000679871.1:n.77C=
ENST00000679974.1:n.120-225C=
ENST00000681632.1:n.4334C=
ENST00000681659.1:c.2772C=	ENSP00000505631.1:p.Ile924=
ENST00000355832.9:c.2931C=	ENSP00000348089.5:p.Ile977=
ENST00000623073.3:c.*1227C=	ENSP00000485650.1:n.*1227C=
ENST00000623115.3:c.1041C=	ENSP00000485321.1:p.Ile347=
ENST00000624341.3:c.763C=
NM_000124.3:c.2931C=	NP_000115.1:p.Ile977=
XR_945953.1:n.243-451G=
NM_001346440.1:c.2931C=	NP_001333369.1:p.Ile977=
NM_000124.4:c.2931C= MANE Select	NP_000115.1:p.Ile977=
NM_001346440.2:c.2931C=	NP_001333369.1:p.Ile977=