Canonical Allele Identifier: CA1908749363

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470355G= , CM000672.2:g.49470355G=	GRCh38
NC_000010.10:g.50678401G= , CM000672.1:g.50678401G=	GRCh37
NC_000010.9:g.50348407G=	NCBI36
NG_009442.1:g.73747C= , LRG_465:g.73747C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3605C= MANE Select	ENSP00000348089.5:p.Pro1202=
ENST00000679552.1:n.676C=
ENST00000679871.1:n.751C=
ENST00000679974.1:n.654C=
ENST00000681632.1:n.5008C=
ENST00000681659.1:c.3446C=	ENSP00000505631.1:p.Pro1149=
ENST00000355832.9:c.3605C=	ENSP00000348089.5:p.Pro1202=
ENST00000623073.3:c.*1901C=	ENSP00000485650.1:n.*1901C=
ENST00000623115.3:c.1715C=	ENSP00000485321.1:p.Pro572=
ENST00000624341.3:c.1437C=
NM_000124.3:c.3605C=	NP_000115.1:p.Pro1202=
XR_945953.1:n.243-1210G=
NM_001346440.1:c.3605C=	NP_001333369.1:p.Pro1202=
NM_000124.4:c.3605C= MANE Select	NP_000115.1:p.Pro1202=
NM_001346440.2:c.3605C=	NP_001333369.1:p.Pro1202=