Canonical Allele Identifier: CA1908750277

Gene: ERCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49472381G= , CM000672.2:g.49472381G=	GRCh38
NC_000010.10:g.50680427G= , CM000672.1:g.50680427G=	GRCh37
NC_000010.9:g.50350433G=	NCBI36
NG_009442.1:g.71721C= , LRG_465:g.71721C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2919C= MANE Select	ENSP00000348089.5:p.Tyr973=
ENST00000681632.1:n.4322C=
ENST00000681659.1:c.2760C=	ENSP00000505631.1:p.Tyr920=
ENST00000355832.9:c.2919C=	ENSP00000348089.5:p.Tyr973=
ENST00000623073.3:c.*1215C=	ENSP00000485650.1:n.*1215C=
ENST00000623115.3:c.1029C=	ENSP00000485321.1:p.Tyr343=
ENST00000624341.3:c.751C=
NM_000124.3:c.2919C=	NP_000115.1:p.Tyr973=
XR_945953.1:n.690-322G=
NM_001346440.1:c.2919C=	NP_001333369.1:p.Tyr973=
NM_000124.4:c.2919C= MANE Select	NP_000115.1:p.Tyr973=
NM_001346440.2:c.2919C=	NP_001333369.1:p.Tyr973=