Canonical Allele Identifier: CA1908749364

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470356G= , CM000672.2:g.49470356G=	GRCh38
NC_000010.10:g.50678402G= , CM000672.1:g.50678402G=	GRCh37
NC_000010.9:g.50348408G=	NCBI36
NG_009442.1:g.73746C= , LRG_465:g.73746C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3604C= MANE Select	ENSP00000348089.5:p.Pro1202=
ENST00000679552.1:n.675C=
ENST00000679871.1:n.750C=
ENST00000679974.1:n.653C=
ENST00000681632.1:n.5007C=
ENST00000681659.1:c.3445C=	ENSP00000505631.1:p.Pro1149=
ENST00000355832.9:c.3604C=	ENSP00000348089.5:p.Pro1202=
ENST00000623073.3:c.*1900C=	ENSP00000485650.1:n.*1900C=
ENST00000623115.3:c.1714C=	ENSP00000485321.1:p.Pro572=
ENST00000624341.3:c.1436C=
NM_000124.3:c.3604C=	NP_000115.1:p.Pro1202=
XR_945953.1:n.243-1209G=
NM_001346440.1:c.3604C=	NP_001333369.1:p.Pro1202=
NM_000124.4:c.3604C= MANE Select	NP_000115.1:p.Pro1202=
NM_001346440.2:c.3604C=	NP_001333369.1:p.Pro1202=