Canonical Allele Identifier: CA1908760341

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49482775G= , CM000672.2:g.49482775G=	GRCh38
NC_000010.10:g.50690821G= , CM000672.1:g.50690821G=	GRCh37
NC_000010.9:g.50360827G=	NCBI36
NG_009442.1:g.61327C= , LRG_465:g.61327C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2081C= MANE Select	ENSP00000348089.5:p.Pro694=
ENST00000681632.1:n.2159C=
ENST00000681659.1:c.1922C=	ENSP00000505631.1:p.Pro641=
ENST00000355832.9:c.2081C=	ENSP00000348089.5:p.Pro694=
ENST00000623073.3:c.*473C=	ENSP00000485650.1:n.*473C=
ENST00000623115.3:c.191C=	ENSP00000485321.1:p.Pro64=
NM_000124.3:c.2081C=	NP_000115.1:p.Pro694=
NM_001346440.1:c.2081C=	NP_001333369.1:p.Pro694=
NM_000124.4:c.2081C= MANE Select	NP_000115.1:p.Pro694=
NM_001346440.2:c.2081C=	NP_001333369.1:p.Pro694=