Canonical Allele Identifier: CA1908749690

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471035G= , CM000672.2:g.49471035G=	GRCh38
NC_000010.10:g.50679081G= , CM000672.1:g.50679081G=	GRCh37
NC_000010.9:g.50349087G=	NCBI36
NG_009442.1:g.73067C= , LRG_465:g.73067C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3010C= MANE Select	ENSP00000348089.5:p.Leu1004=
ENST00000679552.1:n.142-146C=
ENST00000679871.1:n.156C=
ENST00000679974.1:n.120-146C=
ENST00000681632.1:n.4413C=
ENST00000681659.1:c.2851C=	ENSP00000505631.1:p.Leu951=
ENST00000355832.9:c.3010C=	ENSP00000348089.5:p.Leu1004=
ENST00000623073.3:c.*1306C=	ENSP00000485650.1:n.*1306C=
ENST00000623115.3:c.1120C=	ENSP00000485321.1:p.Leu374=
ENST00000624341.3:c.842C=
NM_000124.3:c.3010C=	NP_000115.1:p.Leu1004=
XR_945953.1:n.243-530G=
NM_001346440.1:c.3010C=	NP_001333369.1:p.Leu1004=
NM_000124.4:c.3010C= MANE Select	NP_000115.1:p.Leu1004=
NM_001346440.2:c.3010C=	NP_001333369.1:p.Leu1004=