Canonical Allele Identifier: CA1908749437

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470495G= , CM000672.2:g.49470495G=	GRCh38
NC_000010.10:g.50678541G= , CM000672.1:g.50678541G=	GRCh37
NC_000010.9:g.50348547G=	NCBI36
NG_009442.1:g.73607C= , LRG_465:g.73607C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3465C= MANE Select	ENSP00000348089.5:p.Tyr1155=
ENST00000679552.1:n.536C=
ENST00000679871.1:n.611C=
ENST00000679974.1:n.514C=
ENST00000681632.1:n.4868C=
ENST00000681659.1:c.3306C=	ENSP00000505631.1:p.Tyr1102=
ENST00000355832.9:c.3465C=	ENSP00000348089.5:p.Tyr1155=
ENST00000623073.3:c.*1761C=	ENSP00000485650.1:n.*1761C=
ENST00000623115.3:c.1575C=	ENSP00000485321.1:p.Tyr525=
ENST00000624341.3:c.1297C=
NM_000124.3:c.3465C=	NP_000115.1:p.Tyr1155=
XR_945953.1:n.243-1070G=
NM_001346440.1:c.3465C=	NP_001333369.1:p.Tyr1155=
NM_000124.4:c.3465C= MANE Select	NP_000115.1:p.Tyr1155=
NM_001346440.2:c.3465C=	NP_001333369.1:p.Tyr1155=