Canonical Allele Identifier: CA1908745473

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461414T= , CM000672.2:g.49461414T=	GRCh38
NC_000010.10:g.50669460T= , CM000672.1:g.50669460T=	GRCh37
NC_000010.9:g.50339466T=	NCBI36
NG_009442.1:g.82688A= , LRG_465:g.82688A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3921A= MANE Select	ENSP00000348089.5:p.Ala1307=
ENST00000679552.1:n.992A=
ENST00000679871.1:n.1067A=
ENST00000679974.1:n.970A=
ENST00000681632.1:n.5324A=
ENST00000681659.1:c.3762A=	ENSP00000505631.1:p.Ala1254=
ENST00000355832.9:c.3921A=	ENSP00000348089.5:p.Ala1307=
ENST00000465653.1:n.243A=
ENST00000623073.3:c.*2217A=	ENSP00000485650.1:n.*2217A=
ENST00000623115.3:c.2031A=	ENSP00000485321.1:p.Ala677=
ENST00000624341.3:c.1753A=
NM_000124.3:c.3921A=	NP_000115.1:p.Ala1307=
XR_945953.1:n.243-10151T=
NM_001346440.1:c.3921A=	NP_001333369.1:p.Ala1307=
NM_000124.4:c.3921A= MANE Select	NP_000115.1:p.Ala1307=
NM_001346440.2:c.3921A=	NP_001333369.1:p.Ala1307=