Canonical Allele Identifier: CA1908749706

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471062A= , CM000672.2:g.49471062A=	GRCh38
NC_000010.10:g.50679108A= , CM000672.1:g.50679108A=	GRCh37
NC_000010.9:g.50349114A=	NCBI36
NG_009442.1:g.73040T= , LRG_465:g.73040T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.2983T= MANE Select	ENSP00000348089.5:p.Phe995=
ENST00000679552.1:n.142-173T=
ENST00000679871.1:n.129T=
ENST00000679974.1:n.120-173T=
ENST00000681632.1:n.4386T=
ENST00000681659.1:c.2824T=	ENSP00000505631.1:p.Phe942=
ENST00000355832.9:c.2983T=	ENSP00000348089.5:p.Phe995=
ENST00000623073.3:c.*1279T=	ENSP00000485650.1:n.*1279T=
ENST00000623115.3:c.1093T=	ENSP00000485321.1:p.Phe365=
ENST00000624341.3:c.815T=
NM_000124.3:c.2983T=	NP_000115.1:p.Phe995=
XR_945953.1:n.243-503A=
NM_001346440.1:c.2983T=	NP_001333369.1:p.Phe995=
NM_000124.4:c.2983T= MANE Select	NP_000115.1:p.Phe995=
NM_001346440.2:c.2983T=	NP_001333369.1:p.Phe995=