Canonical Allele Identifier: CA1908749415

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470446T= , CM000672.2:g.49470446T=	GRCh38
NC_000010.10:g.50678492T= , CM000672.1:g.50678492T=	GRCh37
NC_000010.9:g.50348498T=	NCBI36
NG_009442.1:g.73656A= , LRG_465:g.73656A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3514A= MANE Select	ENSP00000348089.5:p.Lys1172=
ENST00000679552.1:n.585A=
ENST00000679871.1:n.660A=
ENST00000679974.1:n.563A=
ENST00000681632.1:n.4917A=
ENST00000681659.1:c.3355A=	ENSP00000505631.1:p.Lys1119=
ENST00000355832.9:c.3514A=	ENSP00000348089.5:p.Lys1172=
ENST00000623073.3:c.*1810A=	ENSP00000485650.1:n.*1810A=
ENST00000623115.3:c.1624A=	ENSP00000485321.1:p.Lys542=
ENST00000624341.3:c.1346A=
NM_000124.3:c.3514A=	NP_000115.1:p.Lys1172=
XR_945953.1:n.243-1119T=
NM_001346440.1:c.3514A=	NP_001333369.1:p.Lys1172=
NM_000124.4:c.3514A= MANE Select	NP_000115.1:p.Lys1172=
NM_001346440.2:c.3514A=	NP_001333369.1:p.Lys1172=