Canonical Allele Identifier: CA1908749406

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470424T= , CM000672.2:g.49470424T=	GRCh38
NC_000010.10:g.50678470T= , CM000672.1:g.50678470T=	GRCh37
NC_000010.9:g.50348476T=	NCBI36
NG_009442.1:g.73678A= , LRG_465:g.73678A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000124.4:c.3536A= MANE Select	NP_000115.1:p.Tyr1179=
ENST00000355832.10:c.3536A= MANE Select	ENSP00000348089.5:p.Tyr1179=
NM_000124.3:c.3536A=	NP_000115.1:p.Tyr1179=
NM_001346440.1:c.3536A=	NP_001333369.1:p.Tyr1179=
NM_001346440.2:c.3536A=	NP_001333369.1:p.Tyr1179=
ENST00000355832.9:c.3536A=	ENSP00000348089.5:p.Tyr1179=
ENST00000623073.3:c.*1832A=	ENSP00000485650.1:n.*1832A=
ENST00000623115.3:c.1646A=	ENSP00000485321.1:p.Tyr549=
ENST00000624341.3:c.1368A=
ENST00000679552.1:n.607A=
ENST00000679871.1:n.682A=
ENST00000679974.1:n.585A=
ENST00000681632.1:n.4939A=
ENST00000681659.1:c.3377A=	ENSP00000505631.1:p.Tyr1126=
XR_945953.1:n.243-1141T=