Canonical Allele Identifier: CA376717575

Gene: ERCC6

Linked Data

• COSMIC: COSM6066095
• MyVariant Identifiers: chr10:g.50679084C>G (hg19) ; chr10:g.49471038C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49471038C>G , CM000672.2:g.49471038C>G	GRCh38
NC_000010.10:g.50679084C>G , CM000672.1:g.50679084C>G	GRCh37
NC_000010.9:g.50349090C>G	NCBI36
NG_009442.1:g.73064G>C , LRG_465:g.73064G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.3007G>C MANE Select	ENSP00000348089.5:p.Glu1003Gln
ENST00000679552.1:n.142-149G>C
ENST00000679871.1:n.153G>C
ENST00000679974.1:n.120-149G>C
ENST00000681632.1:n.4410G>C
ENST00000681659.1:c.2848G>C	ENSP00000505631.1:p.Glu950Gln
ENST00000355832.9:c.3007G>C	ENSP00000348089.5:p.Glu1003Gln
ENST00000623073.3:c.*1303G>C	ENSP00000485650.1:n.*1303G>C
ENST00000623115.3:c.1117G>C	ENSP00000485321.1:p.Glu373Gln
ENST00000624341.3:c.839G>C
NM_000124.3:c.3007G>C	NP_000115.1:p.Glu1003Gln
XR_945953.1:n.243-527C>G
NM_001346440.1:c.3007G>C	NP_001333369.1:p.Glu1003Gln
NM_000124.4:c.3007G>C MANE Select	NP_000115.1:p.Glu1003Gln
NM_001346440.2:c.3007G>C	NP_001333369.1:p.Glu1003Gln