Canonical Allele Identifier: CA469600159

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50668478T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49460432T>G , CM000672.2:g.49460432T>G	GRCh38
NC_000010.10:g.50668478T>G , CM000672.1:g.50668478T>G	GRCh37
NC_000010.9:g.50338484T>G	NCBI36
NG_009442.1:g.83670A>C , LRG_465:g.83670A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355832.10:c.4003A>C MANE Select	ENSP00000348089.5:p.Arg1335=
ENST00000679552.1:n.1074A>C
ENST00000679871.1:n.1149A>C
ENST00000679974.1:n.1052A>C
ENST00000681632.1:n.5406A>C
ENST00000681659.1:c.3844A>C	ENSP00000505631.1:p.Arg1282=
ENST00000355832.9:c.4003A>C	ENSP00000348089.5:p.Arg1335=
ENST00000465653.1:n.325A>C
ENST00000623073.3:c.*2299A>C	ENSP00000485650.1:n.*2299A>C
ENST00000623115.3:c.2113A>C	ENSP00000485321.1:p.Arg705=
ENST00000624341.3:c.1835A>C
NM_000124.3:c.4003A>C	NP_000115.1:p.Arg1335=
XR_945953.1:n.243-11133T>G
NM_001346440.1:c.4003A>C	NP_001333369.1:p.Arg1335=
NM_000124.4:c.4003A>C MANE Select	NP_000115.1:p.Arg1335=
NM_001346440.2:c.4003A>C	NP_001333369.1:p.Arg1335=