Canonical Allele Identifier: CA1908772785

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49493241A= , CM000672.2:g.49493241A=	GRCh38
NC_000010.10:g.50701287A= , CM000672.1:g.50701287A=	GRCh37
NC_000010.9:g.50371293A=	NCBI36
NG_009442.1:g.50861T= , LRG_465:g.50861T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1697T= MANE Select	ENSP00000348089.5:p.Leu566=
ENST00000681632.1:n.1775T=
ENST00000681659.1:c.1538T=	ENSP00000505631.1:p.Leu513=
ENST00000355832.9:c.1697T=	ENSP00000348089.5:p.Leu566=
ENST00000475116.1:n.275+7297T=
ENST00000623073.3:c.98T=	ENSP00000485650.1:p.Leu33=
ENST00000623115.3:c.-70+7297T=	ENSP00000485321.1:n.-70+7297T=
ENST00000623318.1:c.98T=	ENSP00000485423.1:p.Leu33=
NM_000124.3:c.1697T=	NP_000115.1:p.Leu566=
NM_001346440.1:c.1697T=	NP_001333369.1:p.Leu566=
NM_000124.4:c.1697T= MANE Select	NP_000115.1:p.Leu566=
NM_001346440.2:c.1697T=	NP_001333369.1:p.Leu566=