Canonical Allele Identifier: CA1908763611

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49524307A= , CM000672.2:g.49524307A=	GRCh38
NC_000010.10:g.50732353A= , CM000672.1:g.50732353A=	GRCh37
NC_000010.9:g.50402359A=	NCBI36
NG_009442.1:g.19795T= , LRG_465:g.19795T=
NG_033155.1:g.4975T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1123T= MANE Select	ENSP00000348089.5:p.Phe375=
ENST00000447839.7:c.1123T= MANE Plus Clinical	ENSP00000387966.2:p.Phe375=
ENST00000679596.1:c.*752T=	ENSP00000504862.1:n.*752T=
ENST00000679811.1:n.1206T=
ENST00000680107.1:c.652+4110T=	ENSP00000505909.1:n.652+4110T=
ENST00000680233.1:n.1216T=
ENST00000681632.1:n.1201T=
ENST00000681659.1:c.1123T=	ENSP00000505631.1:p.Phe375=
ENST00000355832.9:c.1123T=	ENSP00000348089.5:p.Phe375=
ENST00000447839.6:c.1123T=	ENSP00000387966.2:p.Phe375=
ENST00000515869.1:c.1123T=	ENSP00000423550.1:p.Phe375=
NM_000124.3:c.1123T=	NP_000115.1:p.Phe375=
NM_001277058.1:c.1123T=	NP_001263987.1:p.Phe375=
NM_001277059.1:c.1123T=	NP_001263988.1:p.Phe375=
NM_001346440.1:c.1123T=	NP_001333369.1:p.Phe375=
NM_000124.4:c.1123T= MANE Select	NP_000115.1:p.Phe375=
NM_001277058.2:c.1123T= MANE Plus Clinical	NP_001263987.1:p.Phe375=
NM_001277059.2:c.1123T=	NP_001263988.1:p.Phe375=
NM_001346440.2:c.1123T=	NP_001333369.1:p.Phe375=