Canonical Allele Identifier: CA1908749519

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470689A= , CM000672.2:g.49470689A=	GRCh38
NC_000010.10:g.50678735A= , CM000672.1:g.50678735A=	GRCh37
NC_000010.9:g.50348741A=	NCBI36
NG_009442.1:g.73413T= , LRG_465:g.73413T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.3271T= MANE Select	ENSP00000348089.5:p.Leu1091=
ENST00000679552.1:n.342T=
ENST00000679871.1:n.417T=
ENST00000679974.1:n.320T=
ENST00000681632.1:n.4674T=
ENST00000681659.1:c.3112T=	ENSP00000505631.1:p.Leu1038=
ENST00000355832.9:c.3271T=	ENSP00000348089.5:p.Leu1091=
ENST00000623073.3:c.*1567T=	ENSP00000485650.1:n.*1567T=
ENST00000623115.3:c.1381T=	ENSP00000485321.1:p.Leu461=
ENST00000624341.3:c.1103T=
NM_000124.3:c.3271T=	NP_000115.1:p.Leu1091=
XR_945953.1:n.243-876A=
NM_001346440.1:c.3271T=	NP_001333369.1:p.Leu1091=
NM_000124.4:c.3271T= MANE Select	NP_000115.1:p.Leu1091=
NM_001346440.2:c.3271T=	NP_001333369.1:p.Leu1091=