Canonical Allele Identifier: CA1908745457

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461387G= , CM000672.2:g.49461387G=	GRCh38
NC_000010.10:g.50669433G= , CM000672.1:g.50669433G=	GRCh37
NC_000010.9:g.50339439G=	NCBI36
NG_009442.1:g.82715C= , LRG_465:g.82715C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3948C= MANE Select	ENSP00000348089.5:p.Gly1316=
ENST00000679552.1:n.1019C=
ENST00000679871.1:n.1094C=
ENST00000679974.1:n.997C=
ENST00000681632.1:n.5351C=
ENST00000681659.1:c.3789C=	ENSP00000505631.1:p.Gly1263=
ENST00000355832.9:c.3948C=	ENSP00000348089.5:p.Gly1316=
ENST00000465653.1:n.270C=
ENST00000623073.3:c.*2244C=	ENSP00000485650.1:n.*2244C=
ENST00000623115.3:c.2058C=	ENSP00000485321.1:p.Gly686=
ENST00000624341.3:c.1780C=
NM_000124.3:c.3948C=	NP_000115.1:p.Gly1316=
XR_945953.1:n.243-10178G=
NM_001346440.1:c.3948C=	NP_001333369.1:p.Gly1316=
NM_000124.4:c.3948C= MANE Select	NP_000115.1:p.Gly1316=
NM_001346440.2:c.3948C=	NP_001333369.1:p.Gly1316=