Canonical Allele Identifier: CA1908772709

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493190T= , CM000672.2:g.49493190T=	GRCh38
NC_000010.10:g.50701236T= , CM000672.1:g.50701236T=	GRCh37
NC_000010.9:g.50371242T=	NCBI36
NG_009442.1:g.50912A= , LRG_465:g.50912A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1748A= MANE Select	ENSP00000348089.5:p.Lys583=
ENST00000681632.1:n.1826A=
ENST00000681659.1:c.1589A=	ENSP00000505631.1:p.Lys530=
ENST00000355832.9:c.1748A=	ENSP00000348089.5:p.Lys583=
ENST00000475116.1:n.275+7348A=
ENST00000623073.3:c.149A=	ENSP00000485650.1:p.Lys50=
ENST00000623115.3:c.-70+7348A=	ENSP00000485321.1:n.-70+7348A=
ENST00000623318.1:c.149A=	ENSP00000485423.1:p.Lys50=
NM_000124.3:c.1748A=	NP_000115.1:p.Lys583=
NM_001346440.1:c.1748A=	NP_001333369.1:p.Lys583=
NM_000124.4:c.1748A= MANE Select	NP_000115.1:p.Lys583=
NM_001346440.2:c.1748A=	NP_001333369.1:p.Lys583=