Canonical Allele Identifier: CA1908745471

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461412A= , CM000672.2:g.49461412A=	GRCh38
NC_000010.10:g.50669458A= , CM000672.1:g.50669458A=	GRCh37
NC_000010.9:g.50339464A=	NCBI36
NG_009442.1:g.82690T= , LRG_465:g.82690T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3923T= MANE Select	ENSP00000348089.5:p.Val1308=
ENST00000679552.1:n.994T=
ENST00000679871.1:n.1069T=
ENST00000679974.1:n.972T=
ENST00000681632.1:n.5326T=
ENST00000681659.1:c.3764T=	ENSP00000505631.1:p.Val1255=
ENST00000355832.9:c.3923T=	ENSP00000348089.5:p.Val1308=
ENST00000465653.1:n.245T=
ENST00000623073.3:c.*2219T=	ENSP00000485650.1:n.*2219T=
ENST00000623115.3:c.2033T=	ENSP00000485321.1:p.Val678=
ENST00000624341.3:c.1755T=
NM_000124.3:c.3923T=	NP_000115.1:p.Val1308=
XR_945953.1:n.243-10153A=
NM_001346440.1:c.3923T=	NP_001333369.1:p.Val1308=
NM_000124.4:c.3923T= MANE Select	NP_000115.1:p.Val1308=
NM_001346440.2:c.3923T=	NP_001333369.1:p.Val1308=