Canonical Allele Identifier: CA1908749423

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470469T= , CM000672.2:g.49470469T=	GRCh38
NC_000010.10:g.50678515T= , CM000672.1:g.50678515T=	GRCh37
NC_000010.9:g.50348521T=	NCBI36
NG_009442.1:g.73633A= , LRG_465:g.73633A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3491A= MANE Select	ENSP00000348089.5:p.Gln1164=
ENST00000679552.1:n.562A=
ENST00000679871.1:n.637A=
ENST00000679974.1:n.540A=
ENST00000681632.1:n.4894A=
ENST00000681659.1:c.3332A=	ENSP00000505631.1:p.Gln1111=
ENST00000355832.9:c.3491A=	ENSP00000348089.5:p.Gln1164=
ENST00000623073.3:c.*1787A=	ENSP00000485650.1:n.*1787A=
ENST00000623115.3:c.1601A=	ENSP00000485321.1:p.Gln534=
ENST00000624341.3:c.1323A=
NM_000124.3:c.3491A=	NP_000115.1:p.Gln1164=
XR_945953.1:n.243-1096T=
NM_001346440.1:c.3491A=	NP_001333369.1:p.Gln1164=
NM_000124.4:c.3491A= MANE Select	NP_000115.1:p.Gln1164=
NM_001346440.2:c.3491A=	NP_001333369.1:p.Gln1164=