Canonical Allele Identifier: CA469789187

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50679147A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471101A>G , CM000672.2:g.49471101A>G	GRCh38
NC_000010.10:g.50679147A>G , CM000672.1:g.50679147A>G	GRCh37
NC_000010.9:g.50349153A>G	NCBI36
NG_009442.1:g.73001T>C , LRG_465:g.73001T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.2944T>C MANE Select	ENSP00000348089.5:p.Leu982=
ENST00000679552.1:n.142-212T>C
ENST00000679871.1:n.90T>C
ENST00000679974.1:n.120-212T>C
ENST00000681632.1:n.4347T>C
ENST00000681659.1:c.2785T>C	ENSP00000505631.1:p.Leu929=
ENST00000355832.9:c.2944T>C	ENSP00000348089.5:p.Leu982=
ENST00000623073.3:c.*1240T>C	ENSP00000485650.1:n.*1240T>C
ENST00000623115.3:c.1054T>C	ENSP00000485321.1:p.Leu352=
ENST00000624341.3:c.776T>C
NM_000124.3:c.2944T>C	NP_000115.1:p.Leu982=
XR_945953.1:n.243-464A>G
NM_001346440.1:c.2944T>C	NP_001333369.1:p.Leu982=
NM_000124.4:c.2944T>C MANE Select	NP_000115.1:p.Leu982=
NM_001346440.2:c.2944T>C	NP_001333369.1:p.Leu982=