Canonical Allele Identifier: CA1908750278

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472382T= , CM000672.2:g.49472382T=	GRCh38
NC_000010.10:g.50680428T= , CM000672.1:g.50680428T=	GRCh37
NC_000010.9:g.50350434T=	NCBI36
NG_009442.1:g.71720A= , LRG_465:g.71720A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2918A= MANE Select	ENSP00000348089.5:p.Tyr973=
ENST00000681632.1:n.4321A=
ENST00000681659.1:c.2759A=	ENSP00000505631.1:p.Tyr920=
ENST00000355832.9:c.2918A=	ENSP00000348089.5:p.Tyr973=
ENST00000623073.3:c.*1214A=	ENSP00000485650.1:n.*1214A=
ENST00000623115.3:c.1028A=	ENSP00000485321.1:p.Tyr343=
ENST00000624341.3:c.750A=
NM_000124.3:c.2918A=	NP_000115.1:p.Tyr973=
XR_945953.1:n.690-321T=
NM_001346440.1:c.2918A=	NP_001333369.1:p.Tyr973=
NM_000124.4:c.2918A= MANE Select	NP_000115.1:p.Tyr973=
NM_001346440.2:c.2918A=	NP_001333369.1:p.Tyr973=