Canonical Allele Identifier: CA1908778512

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500589A= , CM000672.2:g.49500589A=	GRCh38
NC_000010.10:g.50708635A= , CM000672.1:g.50708635A=	GRCh37
NC_000010.9:g.50378641A=	NCBI36
NG_009442.1:g.43513T= , LRG_465:g.43513T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1634T= MANE Select	ENSP00000348089.5:p.Phe545=
ENST00000681632.1:n.1712T=
ENST00000681659.1:c.1526+5295T=	ENSP00000505631.1:n.1526+5295T=
ENST00000355832.9:c.1634T=	ENSP00000348089.5:p.Phe545=
ENST00000475116.1:n.224T=
ENST00000623073.3:c.35T=	ENSP00000485650.1:p.Phe12=
ENST00000623115.3:c.-121T=	ENSP00000485321.1:n.-121T=
ENST00000623318.1:c.35T=	ENSP00000485423.1:p.Phe12=
NM_000124.3:c.1634T=	NP_000115.1:p.Phe545=
NM_001346440.1:c.1634T=	NP_001333369.1:p.Phe545=
NM_000124.4:c.1634T= MANE Select	NP_000115.1:p.Phe545=
NM_001346440.2:c.1634T=	NP_001333369.1:p.Phe545=