Canonical Allele Identifier: CA1908749704

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471060A= , CM000672.2:g.49471060A=	GRCh38
NC_000010.10:g.50679106A= , CM000672.1:g.50679106A=	GRCh37
NC_000010.9:g.50349112A=	NCBI36
NG_009442.1:g.73042T= , LRG_465:g.73042T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2985T= MANE Select	ENSP00000348089.5:p.Phe995=
ENST00000679552.1:n.142-171T=
ENST00000679871.1:n.131T=
ENST00000679974.1:n.120-171T=
ENST00000681632.1:n.4388T=
ENST00000681659.1:c.2826T=	ENSP00000505631.1:p.Phe942=
ENST00000355832.9:c.2985T=	ENSP00000348089.5:p.Phe995=
ENST00000623073.3:c.*1281T=	ENSP00000485650.1:n.*1281T=
ENST00000623115.3:c.1095T=	ENSP00000485321.1:p.Phe365=
ENST00000624341.3:c.817T=
NM_000124.3:c.2985T=	NP_000115.1:p.Phe995=
XR_945953.1:n.243-505A=
NM_001346440.1:c.2985T=	NP_001333369.1:p.Phe995=
NM_000124.4:c.2985T= MANE Select	NP_000115.1:p.Phe995=
NM_001346440.2:c.2985T=	NP_001333369.1:p.Phe995=