Canonical Allele Identifier: CA1908778445

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500415G= , CM000672.2:g.49500415G=	GRCh38
NC_000010.10:g.50708461G= , CM000672.1:g.50708461G=	GRCh37
NC_000010.9:g.50378467G=	NCBI36
NG_009442.1:g.43687C= , LRG_465:g.43687C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1685+123C= MANE Select	ENSP00000348089.5:n.1685+123C=
ENST00000681632.1:n.1763+123C=
ENST00000681659.1:c.1526+5469C=	ENSP00000505631.1:n.1526+5469C=
ENST00000355832.9:c.1685+123C=	ENSP00000348089.5:n.1685+123C=
ENST00000475116.1:n.275+123C=
ENST00000623073.3:c.86+123C=	ENSP00000485650.1:n.86+123C=
ENST00000623115.3:c.-70+123C=	ENSP00000485321.1:n.-70+123C=
ENST00000623318.1:c.86+123C=	ENSP00000485423.1:n.86+123C=
NM_000124.3:c.1685+123C=	NP_000115.1:n.1685+123C=
NM_001346440.1:c.1685+123C=	NP_001333369.1:n.1685+123C=
NM_000124.4:c.1685+123C= MANE Select	NP_000115.1:n.1685+123C=
NM_001346440.2:c.1685+123C=	NP_001333369.1:n.1685+123C=