Canonical Allele Identifier: CA1908745450

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49461379C= , CM000672.2:g.49461379C=	GRCh38
NC_000010.10:g.50669425C= , CM000672.1:g.50669425C=	GRCh37
NC_000010.9:g.50339431C=	NCBI36
NG_009442.1:g.82723G= , LRG_465:g.82723G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3956G= MANE Select	ENSP00000348089.5:p.Gly1319=
ENST00000679552.1:n.1027G=
ENST00000679871.1:n.1102G=
ENST00000679974.1:n.1005G=
ENST00000681632.1:n.5359G=
ENST00000681659.1:c.3797G=	ENSP00000505631.1:p.Gly1266=
ENST00000355832.9:c.3956G=	ENSP00000348089.5:p.Gly1319=
ENST00000465653.1:n.278G=
ENST00000623073.3:c.*2252G=	ENSP00000485650.1:n.*2252G=
ENST00000623115.3:c.2066G=	ENSP00000485321.1:p.Gly689=
ENST00000624341.3:c.1788G=
NM_000124.3:c.3956G=	NP_000115.1:p.Gly1319=
XR_945953.1:n.243-10186C=
NM_001346440.1:c.3956G=	NP_001333369.1:p.Gly1319=
NM_000124.4:c.3956G= MANE Select	NP_000115.1:p.Gly1319=
NM_001346440.2:c.3956G=	NP_001333369.1:p.Gly1319=