Canonical Allele Identifier: CA3174146075

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49483488C= , CM000672.2:g.49483488C=	GRCh38
NC_000010.10:g.50691534C= , CM000672.1:g.50691534C=	GRCh37
NC_000010.9:g.50361540C=	NCBI36
NG_009442.1:g.60614G= , LRG_465:g.60614G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.1850G= MANE Select	NP_000115.1:p.Cys617=
ENST00000355832.10:c.1850G= MANE Select	ENSP00000348089.5:p.Cys617=
NM_000124.3:c.1850G=	NP_000115.1:p.Cys617=
NM_001346440.1:c.1850G=	NP_001333369.1:p.Cys617=
NM_001346440.2:c.1850G=	NP_001333369.1:p.Cys617=
ENST00000355832.9:c.1850G=	ENSP00000348089.5:p.Cys617=
ENST00000475116.1:n.304G=
ENST00000623073.3:c.*242G=	ENSP00000485650.1:n.*242G=
ENST00000623115.3:c.-41G=	ENSP00000485321.1:n.-41G=
ENST00000623318.1:c.251G=	ENSP00000485423.1:p.Cys84=
ENST00000681632.1:n.1928G=
ENST00000681659.1:c.1691G=	ENSP00000505631.1:p.Cys564=