Canonical Allele Identifier: CA1908749413

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470442T= , CM000672.2:g.49470442T=	GRCh38
NC_000010.10:g.50678488T= , CM000672.1:g.50678488T=	GRCh37
NC_000010.9:g.50348494T=	NCBI36
NG_009442.1:g.73660A= , LRG_465:g.73660A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3518A= MANE Select	ENSP00000348089.5:p.Gln1173=
ENST00000679552.1:n.589A=
ENST00000679871.1:n.664A=
ENST00000679974.1:n.567A=
ENST00000681632.1:n.4921A=
ENST00000681659.1:c.3359A=	ENSP00000505631.1:p.Gln1120=
ENST00000355832.9:c.3518A=	ENSP00000348089.5:p.Gln1173=
ENST00000623073.3:c.*1814A=	ENSP00000485650.1:n.*1814A=
ENST00000623115.3:c.1628A=	ENSP00000485321.1:p.Gln543=
ENST00000624341.3:c.1350A=
NM_000124.3:c.3518A=	NP_000115.1:p.Gln1173=
XR_945953.1:n.243-1123T=
NM_001346440.1:c.3518A=	NP_001333369.1:p.Gln1173=
NM_000124.4:c.3518A= MANE Select	NP_000115.1:p.Gln1173=
NM_001346440.2:c.3518A=	NP_001333369.1:p.Gln1173=