Canonical Allele Identifier: CA1908749449

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470518C= , CM000672.2:g.49470518C=	GRCh38
NC_000010.10:g.50678564C= , CM000672.1:g.50678564C=	GRCh37
NC_000010.9:g.50348570C=	NCBI36
NG_009442.1:g.73584G= , LRG_465:g.73584G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3442G= MANE Select	ENSP00000348089.5:p.Asp1148=
ENST00000679552.1:n.513G=
ENST00000679871.1:n.588G=
ENST00000679974.1:n.491G=
ENST00000681632.1:n.4845G=
ENST00000681659.1:c.3283G=	ENSP00000505631.1:p.Asp1095=
ENST00000355832.9:c.3442G=	ENSP00000348089.5:p.Asp1148=
ENST00000623073.3:c.*1738G=	ENSP00000485650.1:n.*1738G=
ENST00000623115.3:c.1552G=	ENSP00000485321.1:p.Asp518=
ENST00000624341.3:c.1274G=
NM_000124.3:c.3442G=	NP_000115.1:p.Asp1148=
XR_945953.1:n.243-1047C=
NM_001346440.1:c.3442G=	NP_001333369.1:p.Asp1148=
NM_000124.4:c.3442G= MANE Select	NP_000115.1:p.Asp1148=
NM_001346440.2:c.3442G=	NP_001333369.1:p.Asp1148=