Canonical Allele Identifier: CA1908745484

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461429C= , CM000672.2:g.49461429C=	GRCh38
NC_000010.10:g.50669475C= , CM000672.1:g.50669475C=	GRCh37
NC_000010.9:g.50339481C=	NCBI36
NG_009442.1:g.82673G= , LRG_465:g.82673G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3906G= MANE Select	ENSP00000348089.5:p.Gln1302=
ENST00000679552.1:n.977G=
ENST00000679871.1:n.1052G=
ENST00000679974.1:n.955G=
ENST00000681632.1:n.5309G=
ENST00000681659.1:c.3747G=	ENSP00000505631.1:p.Gln1249=
ENST00000355832.9:c.3906G=	ENSP00000348089.5:p.Gln1302=
ENST00000465653.1:n.228G=
ENST00000623073.3:c.*2202G=	ENSP00000485650.1:n.*2202G=
ENST00000623115.3:c.2016G=	ENSP00000485321.1:p.Gln672=
ENST00000624341.3:c.1738G=
NM_000124.3:c.3906G=	NP_000115.1:p.Gln1302=
XR_945953.1:n.243-10136C=
NM_001346440.1:c.3906G=	NP_001333369.1:p.Gln1302=
NM_000124.4:c.3906G= MANE Select	NP_000115.1:p.Gln1302=
NM_001346440.2:c.3906G=	NP_001333369.1:p.Gln1302=