Canonical Allele Identifier: CA1908750279

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472384G= , CM000672.2:g.49472384G=	GRCh38
NC_000010.10:g.50680430G= , CM000672.1:g.50680430G=	GRCh37
NC_000010.9:g.50350436G=	NCBI36
NG_009442.1:g.71718C= , LRG_465:g.71718C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2916C= MANE Select	ENSP00000348089.5:p.Ile972=
ENST00000681632.1:n.4319C=
ENST00000681659.1:c.2757C=	ENSP00000505631.1:p.Ile919=
ENST00000355832.9:c.2916C=	ENSP00000348089.5:p.Ile972=
ENST00000623073.3:c.*1212C=	ENSP00000485650.1:n.*1212C=
ENST00000623115.3:c.1026C=	ENSP00000485321.1:p.Ile342=
ENST00000624341.3:c.748C=
NM_000124.3:c.2916C=	NP_000115.1:p.Ile972=
XR_945953.1:n.690-319G=
NM_001346440.1:c.2916C=	NP_001333369.1:p.Ile972=
NM_000124.4:c.2916C= MANE Select	NP_000115.1:p.Ile972=
NM_001346440.2:c.2916C=	NP_001333369.1:p.Ile972=