Canonical Allele Identifier: CA376713546

Gene: ERCC6

Linked Data

• MyVariant Identifiers: chr10:g.50678413T>C (hg19) ; chr10:g.49470367T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49470367T>C , CM000672.2:g.49470367T>C	GRCh38
NC_000010.10:g.50678413T>C , CM000672.1:g.50678413T>C	GRCh37
NC_000010.9:g.50348419T>C	NCBI36
NG_009442.1:g.73735A>G , LRG_465:g.73735A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3593A>G MANE Select	ENSP00000348089.5:p.Lys1198Arg
ENST00000679552.1:n.664A>G
ENST00000679871.1:n.739A>G
ENST00000679974.1:n.642A>G
ENST00000681632.1:n.4996A>G
ENST00000681659.1:c.3434A>G	ENSP00000505631.1:p.Lys1145Arg
ENST00000355832.9:c.3593A>G	ENSP00000348089.5:p.Lys1198Arg
ENST00000623073.3:c.*1889A>G	ENSP00000485650.1:n.*1889A>G
ENST00000623115.3:c.1703A>G	ENSP00000485321.1:p.Lys568Arg
ENST00000624341.3:c.1425A>G
NM_000124.3:c.3593A>G	NP_000115.1:p.Lys1198Arg
XR_945953.1:n.243-1198T>C
NM_001346440.1:c.3593A>G	NP_001333369.1:p.Lys1198Arg
NM_000124.4:c.3593A>G MANE Select	NP_000115.1:p.Lys1198Arg
NM_001346440.2:c.3593A>G	NP_001333369.1:p.Lys1198Arg