Canonical Allele Identifier: CA1908750275

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472377G= , CM000672.2:g.49472377G=	GRCh38
NC_000010.10:g.50680423G= , CM000672.1:g.50680423G=	GRCh37
NC_000010.9:g.50350429G=	NCBI36
NG_009442.1:g.71725C= , LRG_465:g.71725C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2923C= MANE Select	ENSP00000348089.5:p.Arg975=
ENST00000681632.1:n.4326C=
ENST00000681659.1:c.2764C=	ENSP00000505631.1:p.Arg922=
ENST00000355832.9:c.2923C=	ENSP00000348089.5:p.Arg975=
ENST00000623073.3:c.*1219C=	ENSP00000485650.1:n.*1219C=
ENST00000623115.3:c.1033C=	ENSP00000485321.1:p.Arg345=
ENST00000624341.3:c.755C=
NM_000124.3:c.2923C=	NP_000115.1:p.Arg975=
XR_945953.1:n.690-326G=
NM_001346440.1:c.2923C=	NP_001333369.1:p.Arg975=
NM_000124.4:c.2923C= MANE Select	NP_000115.1:p.Arg975=
NM_001346440.2:c.2923C=	NP_001333369.1:p.Arg975=