Canonical Allele Identifier: CA1908778471

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500485G= , CM000672.2:g.49500485G=	GRCh38
NC_000010.10:g.50708531G= , CM000672.1:g.50708531G=	GRCh37
NC_000010.9:g.50378537G=	NCBI36
NG_009442.1:g.43617C= , LRG_465:g.43617C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1685+53C= MANE Select	ENSP00000348089.5:n.1685+53C=
ENST00000681632.1:n.1763+53C=
ENST00000681659.1:c.1526+5399C=	ENSP00000505631.1:n.1526+5399C=
ENST00000355832.9:c.1685+53C=	ENSP00000348089.5:n.1685+53C=
ENST00000475116.1:n.275+53C=
ENST00000623073.3:c.86+53C=	ENSP00000485650.1:n.86+53C=
ENST00000623115.3:c.-70+53C=	ENSP00000485321.1:n.-70+53C=
ENST00000623318.1:c.86+53C=	ENSP00000485423.1:n.86+53C=
NM_000124.3:c.1685+53C=	NP_000115.1:n.1685+53C=
NM_001346440.1:c.1685+53C=	NP_001333369.1:n.1685+53C=
NM_000124.4:c.1685+53C= MANE Select	NP_000115.1:n.1685+53C=
NM_001346440.2:c.1685+53C=	NP_001333369.1:n.1685+53C=